[X] Close
You are about to erase all the values you have customized, search history, page format, etc.
Click here to RESET all values       Click here to GO BACK without resetting any value
Items 1 to 100 of about 1420
1. Evans DG, Watson C, King A, Wallace AJ, Baser ME: Multiple meningiomas: differential involvement of the NF2 gene in children and adults. J Med Genet; 2005 Jan;42(1):45-8
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Multiple meningiomas: differential involvement of the NF2 gene in children and adults.
  • OBJECTIVE: To screen for NF2 mutations in people with meningiomas.
  • METHODS: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age < or =15 years without vestibular schwannoma (VS), or who had multiple meningiomas in adulthood before the diagnosis of vs.
  • RESULTS: Eight of 13 people with meningioma and other features of neurofibromatosis 2 (NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations.
  • CONCLUSIONS: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non-VS features of NF2.
  • Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.
  • [MeSH-major] Genes, Neurofibromatosis 2. Meningioma / genetics. Mutation. Neuroma, Acoustic / genetics. Point Mutation
  • [MeSH-minor] Adolescent. Adult. Child. Humans. Loss of Heterozygosity. Mosaicism. Neurofibromatosis 2 / genetics. Polymerase Chain Reaction

  • MedlinePlus Health Information. consumer health - Acoustic Neuroma.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Pathol. 2001 Jul;194(3):367-72 [11439370.001]
  • [Cites] J Neurosurg. 2001 Jan;94(1):111-7 [11147878.001]
  • [Cites] J Neuropathol Exp Neurol. 2000 Oct;59(10):872-9 [11079777.001]
  • [Cites] Hum Mol Genet. 2000 Jun 12;9(10):1495-500 [10888600.001]
  • [Cites] J Neuropathol Exp Neurol. 2000 Jun;59(6):504-12 [10850863.001]
  • [Cites] J Neurosurg. 2000 May;92(5):766-70 [10794289.001]
  • [Cites] Neurology. 2000 Jan 11;54(1):71-6 [10636128.001]
  • [Cites] Arch Dis Child. 1999 Dec;81(6):496-9 [10569966.001]
  • [Cites] J Neuropathol Exp Neurol. 2001 Oct;60(10):994-1003 [11589430.001]
  • [Cites] Genet Test. 1999;3(2):173-83 [10464665.001]
  • [Cites] Neurosurgery. 1999 Aug;45(2):409-16 [10449091.001]
  • [Cites] Oncogene. 1999 Apr 1;18(13):2231-9 [10327069.001]
  • [Cites] Am J Hum Genet. 1998 Sep;63(3):727-36 [9718334.001]
  • [Cites] Cancer Res. 1998 Aug 1;58(15):3226-30 [9699646.001]
  • [Cites] J Neurosurg. 1998 Mar;88(3):562-9 [9488313.001]
  • [Cites] J Neurooncol. 1996 Sep;29(3):197-205 [8858525.001]
  • [Cites] J Neurosurg. 1996 May;84(5):847-51 [8622160.001]
  • [Cites] Neurology. 1993 Oct;43(10):2096-8 [8413972.001]
  • [Cites] Q J Med. 1992 Aug;84(304):603-18 [1484939.001]
  • [Cites] Hum Pathol. 2002 Mar;33(3):375-8 [11979381.001]
  • [Cites] J Neurosurg. 2002 Nov;97(5):1078-82 [12450029.001]
  • [Cites] Int J Cancer. 2003 Feb 10;103(4):483-8 [12478663.001]
  • [Cites] J Med Genet. 2003 Jun;40(6):459-63 [12807969.001]
  • [Cites] J Med Genet. 1992 Dec;29(12):841-6 [1479598.001]
  • (PMID = 15635074.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC1735900
  •  go-up   go-down


2. Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF: Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet; 2005 May;116(6):466-75
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.
  • [MeSH-major] Chromosome Deletion. Chromosomes, Human, Pair 17. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology


3. Gill AJ, Chou A, Vilain R, Clarkson A, Lui M, Jin R, Tobias V, Samra J, Goldstein D, Smith C, Sioson L, Parker N, Smith RC, Sywak M, Sidhu SB, Wyatt JM, Robinson BG, Eckstein RP, Benn DE, Clifton-Bligh RJ: Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. Am J Surg Pathol; 2010 May;34(5):636-44
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We performed SDHB immunohistochemistry on GISTs arising in 5 individuals with CT, 1 child, 7 individuals with GIST in young adulthood including 2 with germline KIT mutations, 3 individuals with neurofibromatosis 1, one 63-year-old female with multifocal gastric epithelioid GIST with lymph node metastases, and 104 consecutive unselected individuals with apparently sporadic GIST.
  • GISTs from the 7 young adults and 3 with neurofibromatosis were SDHB positive.
  • Furthermore, when negative staining occurs in apparently sporadic GISTs in adults, the GISTs show morphologic and clinical features similar to pediatric and CT type GISTs.
  • GISTs may therefore be divided into type 1 (SDHB positive) and type 2 (SDHB negative) subtypes.
  • [MeSH-major] Gastrointestinal Stromal Tumors / diagnosis. Immunohistochemistry / methods. Succinate Dehydrogenase / metabolism
  • [MeSH-minor] Adolescent. Adult. Biomarkers, Tumor / metabolism. Chondroma / genetics. Chondroma / metabolism. Chondroma / pathology. Female. Germ-Line Mutation. Humans. Lung Neoplasms / genetics. Lung Neoplasms / metabolism. Lung Neoplasms / pathology. Lymph Nodes / pathology. Lymphatic Metastasis. Male. Middle Aged. Neoplastic Syndromes, Hereditary / genetics. Neoplastic Syndromes, Hereditary / metabolism. Neoplastic Syndromes, Hereditary / pathology. Neurofibromatosis 1 / metabolism. Neurofibromatosis 1 / pathology. Paraganglioma / genetics. Paraganglioma / metabolism. Paraganglioma / pathology. Young Adult

  • Genetic Alliance. consumer health - Gastrointestinal Stromal Tumors.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20305538.001).
  • [ISSN] 1532-0979
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; EC 1.3.5.1 / SDHB protein, human; EC 1.3.99.1 / Succinate Dehydrogenase
  •  go-up   go-down


Advertisement
4. Bhatoe HS, Singh P, Dutta V: Intraventricular meningiomas: a clinicopathological study and review. Neurosurg Focus; 2006;20(3):E9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: In this retrospective analysis, the authors describe the cases of 12 patients who had received a diagnosis of intraventricular meningioma and underwent surgery for the tumors.
  • Features of neurofibromatosis Type 2 were present in two of the women.
  • Nine of the tumors were located in the lateral ventricles, one was in the third ventricle, and two were in the fourth ventricle.
  • Excision was performed using the parietooccipital (trigonal) approach for lateral ventricle tumors, the transcortical-transventricular route for the third ventricle tumor, and suboccipital craniectomy for fourth ventricle tumors.
  • Although they are commonly seen in the lateral ventricles, they occur in the third and fourth ventricles as well.
  • Presentation is in the form of raised ICP with no localizing features; therefore the diagnosis is based on imaging studies.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16599425.001).
  • [ISSN] 1092-0684
  • [Journal-full-title] Neurosurgical focus
  • [ISO-abbreviation] Neurosurg Focus
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 26
  •  go-up   go-down


5. Kokkinakis DM, Liu X, Neuner RD: Modulation of cell cycle and gene expression in pancreatic tumor cell lines by methionine deprivation (methionine stress): implications to the therapy of pancreatic adenocarcinoma. Mol Cancer Ther; 2005 Sep;4(9):1338-48
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Although methionine stress-induced toxicity is not solely dependent on p53, the gain in p21 and loss in CDK1 transcription are more enhanced in wild-type p53 tumors.
  • Cell cycle and mitotic arrest is in agreement with up-regulation of NF2, ETS2, CLU, GADD45alpha, GADD45beta, and GADD45gamma and down-regulation of AURKB, TOP2A, CCNA, CCNB, PRC1, BUB1, NuSAP, IFI16, and BRCA1.


6. Keyhan N, Minden D, Ickowicz A: Clinical case rounds in child and adolescent psychiatry: neurofibromatosis type 1, cognitive impairment, and attention deficit hyperactivity disorder. J Can Acad Child Adolesc Psychiatry; 2006 May;15(2):87-89
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical case rounds in child and adolescent psychiatry: neurofibromatosis type 1, cognitive impairment, and attention deficit hyperactivity disorder.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Child Neurol. 2000 Feb;15(2):90-6 [10695893.001]
  • [Cites] Dev Med Child Neurol. 2002 Mar;44(3):164-70 [12005317.001]
  • [Cites] J Child Neurol. 2002 Aug;17(8):592-601; discussion 602-4, 646-51 [12403558.001]
  • [Cites] J Child Neurol. 2002 Aug;17(8):605-12; discussion 627-9, 646-51 [12403559.001]
  • [Cites] Am J Med Genet A. 2003 Jul 30;120A(3):326-30 [12838550.001]
  • [Cites] Neurology. 1996 Jun;46(6):1660-8 [8649566.001]
  • [Cites] Neurology. 1997 Apr;48(4):1121-7 [9109916.001]
  • [Cites] J Abnorm Child Psychol. 1998 Aug;26(4):257-68 [9700518.001]
  • [CommentIn] J Can Acad Child Adolesc Psychiatry. 2006 May;15(2):89-90 [18392200.001]
  • (PMID = 18392199.001).
  • [ISSN] 1719-8429
  • [Journal-full-title] Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Académie canadienne de psychiatrie de l'enfant et de l'adolescent
  • [ISO-abbreviation] J Can Acad Child Adolesc Psychiatry
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Canada
  • [Other-IDs] NLM/ PMC2277290
  •  go-up   go-down


7. Jain D, Ebrahimi KB, Miller NR, Eberhart CG: Intraorbital meningiomas: a pathologic review using current World Health Organization criteria. Arch Pathol Lab Med; 2010 May;134(5):766-70
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Two patients were known to have neurofibromatosis type 2, and 1 had inherited retinoblastoma.
  • Four tumors (8%) were WHO grade II, with 4 or more mitotic figures per 10 high-power fields, brain invasion, chordoid histology, or a combination of these features.
  • The percentage of WHO grade II tumors in the orbit (8%) is similar to that reported for intracranial tumors using the current grading scheme.

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20441509.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  •  go-up   go-down


8. Siddiqui MA, Leslie T, Scott C, Mackenzie J: Eyelid schwannoma in a male adult. Clin Exp Ophthalmol; 2005 Aug;33(4):412-3
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Eyelid schwannoma in a male adult.
  • Solitary lesions can occur sporadically in the general population but multiple neurofibromas are distinctive feature of neurofibromatosis type 1 and bilateral acoustic schwannomas are a feature of neurofibromatosis type 2.
  • Herein, a case of eyelid schwannoma in a 53-year-old man is described.

  • Genetic Alliance. consumer health - Schwannoma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16033357.001).
  • [ISSN] 1442-6404
  • [Journal-full-title] Clinical & experimental ophthalmology
  • [ISO-abbreviation] Clin. Experiment. Ophthalmol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
  •  go-up   go-down


9. Scheithauer BW, Silva AI, Ketterling RP, Pula JH, Lininger JF, Krinock MJ: Rosette-forming glioneuronal tumor: report of a chiasmal-optic nerve example in neurofibromatosis type 1: special pathology report. Neurosurgery; 2009 Apr;64(4):E771-2; discussion E772
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Rosette-forming glioneuronal tumor: report of a chiasmal-optic nerve example in neurofibromatosis type 1: special pathology report.
  • OBJECTIVE: Rosette-forming glioneuronal tumor is a rare, rather recently described tumor featuring a highly distinctive, biphasic histological pattern, including a cytologically uniform neuronal component of Homer-Wright type pseudorosettes and an accompanying astrocytic element resembling pilocytic astrocytoma.
  • CLINICAL PRESENTATION: In this article, we describe the first rosette-forming glioneuronal tumor arising outside this site, a histologically classic example involving the anterior visual pathway and associated with neurofibromatosis type 1.
  • INTERVENTION: Genetic (fluorescent in situ hybridization) studies demonstrated no large deletion in either normal or neoplastic tissue, indicating that the genetic abnormality underlying neurofibromatosis type 1 in this patient is likely a very small deletion or point mutation.
  • CONCLUSION: The relation of the tumor to the underlying neurofibromatosis type 1 cannot be assessed.
  • [MeSH-major] Neurofibromatosis 1 / pathology. Optic Chiasm / pathology. Optic Nerve Neoplasms / pathology


10. Martínez-Tello FJ, Manjón-Luengo P, Martin-Pérez M, Montes-Moreno S: Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings. Skeletal Radiol; 2005 Dec;34(12):793-8
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings.
  • We present a patient with neurofibromatosis type 1, with the clinical, radiological and histological features of cherubism mandibular lesions, and multiple osteolytic, geographic lesions in both femurs, consistent with multiple non-ossifying fibromas.
  • [MeSH-major] Cherubism / complications. Neurofibromatosis 1 / complications. Osteolysis / etiology
  • [MeSH-minor] Child. Diagnosis, Differential. Femur. Humans. Male

  • Genetic Alliance. consumer health - Cherubism.
  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Int J Oral Surg. 1985 Apr;14(2):138-45 [3920157.001]
  • [Cites] Pathol Annu. 1971;6:81-146 [5154249.001]
  • [Cites] J Am Dent Assoc. 1988 Nov;117(6):731-3 [3198881.001]
  • [Cites] Skeletal Radiol. 1999 Jun;28(6):350-3 [10450884.001]
  • [Cites] Br J Oral Maxillofac Surg. 1991 Apr;29(2):102-5 [2049348.001]
  • [Cites] Science. 1987 May 29;236(4805):1100-2 [3107130.001]
  • [Cites] Am J Hum Genet. 1999 Jul;65(1):158-66 [10364528.001]
  • [Cites] AJR Am J Roentgenol. 2004 Apr;182(4):1051-4 [15039186.001]
  • [Cites] Clin Orthop Relat Res. 1982 Aug;(168):192-205 [7105545.001]
  • [Cites] J Oral Surg. 1973 Aug;31(8):632-5 [4515489.001]
  • [Cites] J Maxillofac Surg. 1977 Jun;5(2):127-9 [267702.001]
  • [Cites] Oral Surg Oral Med Oral Pathol. 1992 Mar;73(3):369-74 [1545971.001]
  • [Cites] Am J Med Genet A. 2003 Aug 15;121A(1):37-40 [12900899.001]
  • [Cites] Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999 Jan;87(1):67-72 [9927083.001]
  • [Cites] J Oral Maxillofac Surg. 1990 Mar;48(3):300-5 [2303939.001]
  • [Cites] Am J Hum Genet. 1999 Jul;65(1):151-7 [10364527.001]
  • [Cites] Skeletal Radiol. 1987;16(1):6-10 [3823963.001]
  • [Cites] Am J Med Genet. 1991 Aug 1;40(2):159-66 [1897569.001]
  • [Cites] J Bone Joint Surg Br. 1950 Aug;32-B(3):334-47 [14778852.001]
  • [Cites] Clin Genet. 1996 Feb;49(2):59-64 [8740913.001]
  • (PMID = 16096755.001).
  • [ISSN] 0364-2348
  • [Journal-full-title] Skeletal radiology
  • [ISO-abbreviation] Skeletal Radiol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  •  go-up   go-down


11. Sarkozy A, Digilio MC, Dallapiccola B: Leopard syndrome. Orphanet J Rare Dis; 2008;3:13
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness.
  • LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome.
  • Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted.
  • [MeSH-minor] Adult. Cardiomyopathy, Hypertrophic / pathology. Child, Preschool. Face / abnormalities. Female. Humans. Mutation. Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics. Skin / pathology

  • Genetic Alliance. consumer health - LEOPARD syndrome.
  • Genetics Home Reference. consumer health - Noonan syndrome with multiple lentigines.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Orphanet J Rare Dis. 2007;2:4 [17222357.001]
  • [Cites] Hum Mutat. 2003 Jun;21(6):654 [14961557.001]
  • [Cites] Nat Genet. 2007 Aug;39(8):1013-7 [17603482.001]
  • [Cites] Nat Genet. 2007 Aug;39(8):1007-12 [17603483.001]
  • [Cites] Am J Cardiol. 2007 Aug 15;100(4):736-41 [17697839.001]
  • [Cites] Arch Dermatol. 2007 Sep;143(9):1210-1 [17875892.001]
  • [Cites] Br J Dermatol. 2007 Dec;157(6):1297-9 [17927788.001]
  • [Cites] Am J Med Genet A. 2008 Mar 1;146A(5):620-8 [18241070.001]
  • [Cites] Nat Genet. 2001 Dec;29(4):465-8 [11704759.001]
  • [Cites] Am J Hum Genet. 2002 Jun;70(6):1555-63 [11992261.001]
  • [Cites] Am J Hum Genet. 2002 Aug;71(2):389-94 [12058348.001]
  • [Cites] J Pediatr. 2004 Mar;144(3):368-74 [15001945.001]
  • [Cites] J Med Genet. 2004 May;41(5):e68 [15121796.001]
  • [Cites] Lancet. 2004 Jun 5;363(9424):1881-91 [15183628.001]
  • [Cites] Am J Med Genet A. 2004 Nov 1;130A(4):432-4 [15389709.001]
  • [Cites] Am J Dis Child. 1969 Jun;117(6):652-62 [5771505.001]
  • [Cites] Arch Dermatol. 1971 Oct;104(4):393-401 [5000391.001]
  • [Cites] Br Heart J. 1972 Jan;34(1):58-66 [4258224.001]
  • [Cites] Birth Defects Orig Artic Ser. 1971 Mar;07(4):110-5 [5173334.001]
  • [Cites] Am J Med. 1976 Mar;60(3):447-56 [1258892.001]
  • [Cites] Am J Med Genet. 1985 Jul;21(3):477-90 [3927726.001]
  • [Cites] Am J Med Genet. 1997 May 16;70(2):138-43 [9128932.001]
  • [Cites] J Med Genet. 1997 Jul;34(7):582-6 [9222968.001]
  • [Cites] Chest. 1998 May;113(5):1415-7 [9596329.001]
  • [Cites] J Med Genet. 2004 Nov;41(11):e117 [15520399.001]
  • [Cites] Nat Rev Mol Cell Biol. 2004 Nov;5(11):875-85 [15520807.001]
  • [Cites] Eur J Hum Genet. 2004 Dec;12(12):1069-72 [15470362.001]
  • [Cites] J Hum Genet. 2005;50(1):21-5 [15690106.001]
  • [Cites] Am J Med Genet A. 2005 Apr 15;134A(2):132-43 [15712196.001]
  • [Cites] Am J Med Genet A. 2005 Jul 30;136(3):242-5 [15948193.001]
  • [Cites] Eur J Pediatr. 2005 Aug;164(8):497-500 [15889278.001]
  • [Cites] Annu Rev Genomics Hum Genet. 2005;6:45-68 [16124853.001]
  • [Cites] Trends Cardiovasc Med. 2005 Aug;15(6):225-9 [16182133.001]
  • [Cites] Am J Hum Genet. 2005 Dec;77(6):1092-101 [16380919.001]
  • [Cites] Am J Hum Genet. 2006 Feb;78(2):279-90 [16358218.001]
  • [Cites] J Biol Chem. 2006 Mar 10;281(10):6785-92 [16377799.001]
  • [Cites] Nat Med. 2006 Mar;12(3):283-5 [16520774.001]
  • [Cites] Clin Genet. 2006 Mar;69(3):246-53 [16542390.001]
  • [Cites] Am J Med Genet A. 2006 Apr 1;140(7):740-6 [16523510.001]
  • [Cites] J Pediatr Hematol Oncol. 2006 Mar;28(3):123-5 [16679933.001]
  • [Cites] Eur J Pediatr. 2006 Nov;165(11):803-5 [16733669.001]
  • [Cites] Am J Med Genet A. 2006 Dec 15;140(24):2749-56 [17103458.001]
  • [Cites] J Med Genet. 2002 Aug;39(8):571-4 [12161596.001]
  • [Cites] Pediatr Dermatol. 2003 Mar-Apr;20(2):158-60 [12657016.001]
  • [Cites] Trends Biochem Sci. 2003 Jun;28(6):284-93 [12826400.001]
  • [Cites] J Med Genet. 2003 Sep;40(9):704-8 [12960218.001]
  • [Cites] Curr Opin Hematol. 2004 Jan;11(1):44-50 [14676626.001]
  • [Cites] Am J Med Genet A. 2007 May 1;143A(9):1009-11 [17366582.001]
  • (PMID = 18505544.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.1.3.48 / PTPN11 protein, human; EC 3.1.3.48 / Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • [Number-of-references] 51
  • [Other-IDs] NLM/ PMC2467408
  •  go-up   go-down


12. Niv MY, Iida K, Zheng R, Horiguchi A, Shen R, Nanus DM: Rational redesign of neutral endopeptidase binding to merlin and moesin proteins. Protein Sci; 2009 May;18(5):1042-50
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Here we show that the ERM-related protein merlin (NF2) does not bind NEP or its cytosolic region.

  • COS Scholar Universe. author profiles.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Cell. 2000 Apr 28;101(3):259-70 [10847681.001]
  • [Cites] Biopolymers. 2009 Jul;91(7):505-13 [19226619.001]
  • [Cites] J Clin Neurosci. 2001 Jan;8(1):4-7 [11148074.001]
  • [Cites] Mol Cell. 2000 Dec;6(6):1425-36 [11163215.001]
  • [Cites] Genes Dev. 2001 Apr 15;15(8):968-80 [11316791.001]
  • [Cites] Dev Cell. 2001 Jul;1(1):63-72 [11703924.001]
  • [Cites] Nat Rev Mol Cell Biol. 2002 Aug;3(8):586-99 [12154370.001]
  • [Cites] J Cell Sci. 2002 Nov 1;115(Pt 21):3991-4000 [12356905.001]
  • [Cites] EMBO J. 2003 Feb 3;22(3):502-14 [12554651.001]
  • [Cites] Biochem Soc Trans. 2003 Jun;31(Pt 3):723-7 [12773192.001]
  • [Cites] J Clin Oncol. 2003 Sep 1;21(17):3249-54 [12947059.001]
  • [Cites] J Biol Chem. 2004 Jan 9;279(2):1242-55 [14570903.001]
  • [Cites] Cancer Cell. 2004 Jan;5(1):67-78 [14749127.001]
  • [Cites] J Biol Chem. 2004 Mar 19;279(12):11898-905 [14704146.001]
  • [Cites] Nucleic Acids Res. 2004 Jul 1;32(Web Server issue):W526-31 [15215442.001]
  • [Cites] Clin Cancer Res. 2004 Jun 15;10(12 Pt 1):4096-100 [15217945.001]
  • [Cites] J Neurochem. 1984 Nov;43(5):1295-301 [6387047.001]
  • [Cites] Nucleic Acids Res. 1990 Nov 25;18(22):6485-9 [2251111.001]
  • [Cites] Biochem Soc Trans. 1993 Aug;21 ( Pt 3)(3):663-8 [8224486.001]
  • [Cites] J Mol Graph. 1996 Feb;14(1):33-8, 27-8 [8744570.001]
  • [Cites] Gene. 1997 Oct 24;200(1-2):135-44 [9373147.001]
  • [Cites] Nat Med. 1998 Jan;4(1):50-7 [9427606.001]
  • [Cites] J Biol Chem. 1998 Mar 27;273(13):7757-64 [9516485.001]
  • [Cites] J Biol Chem. 2005 Apr 1;280(13):12517-22 [15699051.001]
  • [Cites] Proteins. 2005 Aug 1;60(2):232-8 [15981252.001]
  • [Cites] Biochim Biophys Acta. 2005 Aug 1;1751(1):52-9 [16054017.001]
  • [Cites] J Am Chem Soc. 2005 Oct 12;127(40):14072-9 [16201829.001]
  • [Cites] Biotechniques. 2005 Oct;39(4):575-6 [16235571.001]
  • [Cites] Nucleic Acids Res. 2006;34(17):e112 [16971460.001]
  • [Cites] J Comput Aided Mol Des. 2006 Jul-Aug;20(7-8):437-48 [17103019.001]
  • [Cites] PLoS Comput Biol. 2006 Nov 10;2(11):e153 [17096593.001]
  • [Cites] J Mol Biol. 2007 Feb 2;365(5):1446-59 [17134719.001]
  • [Cites] Folia Histochem Cytobiol. 2006;44(4):231-48 [17219717.001]
  • [Cites] Curr Opin Cell Biol. 2007 Feb;19(1):51-6 [17175152.001]
  • [Cites] Trends Cell Biol. 2007 May;17(5):222-9 [17442573.001]
  • [Cites] J Biol Chem. 2007 Jul 6;282(27):19854-62 [17459884.001]
  • [Cites] Proteins. 2007 Dec 1;69(4):839-44 [17803236.001]
  • [Cites] Genes Cells. 2007 Dec;12(12):1329-38 [18076570.001]
  • [Cites] Nature. 2007 Dec 13;450(7172):1001-9 [18075579.001]
  • [Cites] J Comb Chem. 2008 Mar-Apr;10(2):256-66 [18271560.001]
  • [Cites] Mol Pharmacol. 2008 May;73(5):1578-86 [18314496.001]
  • [Cites] Diabetes Metab Res Rev. 2008 Oct;24(7):577-84 [18613220.001]
  • [Cites] J Biol Chem. 2008 Oct 24;283(43):29602-12 [18753140.001]
  • [Cites] J Clin Invest. 2000 Dec;106(11):1399-407 [11104793.001]
  • (PMID = 19388049.001).
  • [ISSN] 1469-896X
  • [Journal-full-title] Protein science : a publication of the Protein Society
  • [ISO-abbreviation] Protein Sci.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA80240; United States / NCI NIH HHS / PC / PC040758
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Microfilament Proteins; 0 / Neurofibromin 2; 0 / Peptides; 144131-77-1 / moesin; EC 3.4.24.11 / Neprilysin
  • [Other-IDs] NLM/ PMC2771306
  •  go-up   go-down


13. Thomas R, Duke SE, Wang HJ, Breen TE, Higgins RJ, Linder KE, Ellis P, Langford CF, Dickinson PJ, Olby NJ, Breen M: 'Putting our heads together': insights into genomic conservation between human and canine intracranial tumors. J Neurooncol; 2009 Sep;94(3):333-49
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Interestingly, however, genomic imbalances orthologous to some of the hallmark aberrations of human intracranial tumors, including chromosome 22/NF2 deletions in meningiomas and chromosome 1p/19q deletions in oligodendrogliomas, were not major events in the dog.

  • MedlinePlus Health Information. consumer health - Brain Tumors.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Cancer. 2000 Jan 15;88(2):440-53 [10640979.001]
  • [Cites] Cytogenet Genome Res. 2008;122(2):110-21 [19096206.001]
  • [Cites] Vet Pathol. 2000 Mar;37(2):160-7 [10714645.001]
  • [Cites] J Neuropathol Exp Neurol. 2001 Mar;60(3):248-62 [11245209.001]
  • [Cites] Clin Cancer Res. 2001 Apr;7(4):839-45 [11309331.001]
  • [Cites] J Neuropathol Exp Neurol. 2002 Mar;61(3):215-25; discussion 226-9 [11895036.001]
  • [Cites] Genome Res. 2002 Jun;12(6):996-1006 [12045153.001]
  • [Cites] J Small Anim Pract. 2002 Jun;43(6):240-6 [12074288.001]
  • [Cites] Cancer Genet Cytogenet. 2002 Jun;135(2):147-59 [12127399.001]
  • [Cites] Acta Neurol Belg. 2002 Jun;102(2):53-62 [12161900.001]
  • [Cites] Cancer. 2003 Mar 1;97(5):1276-84 [12599236.001]
  • [Cites] Cancer Res. 2003 Sep 15;63(18):5821-8 [14522905.001]
  • [Cites] Br J Cancer. 2003 Oct 20;89(8):1530-7 [14562028.001]
  • [Cites] Vet Pathol. 2003 Nov;40(6):659-69 [14608019.001]
  • [Cites] Vet Pathol. 2004 Jan;41(1):10-9 [14715963.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2004 Jun;75 Suppl 2:ii2-11 [15146033.001]
  • [Cites] Science. 2004 May 21;304(5674):1160-4 [15155949.001]
  • [Cites] Brain Pathol. 2004 Apr;14(2):121-30 [15193024.001]
  • [Cites] J Neurosurg. 2004 Aug;101(2):210-8 [15309910.001]
  • [Cites] BMC Genomics. 2004 Sep 13;5:65 [15363096.001]
  • [Cites] Hereditas. 1972;71(1):163-8 [4142025.001]
  • [Cites] J Clin Oncol. 1990 Dec;8(12):2090-1 [2230902.001]
  • [Cites] Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14719-24 [9405679.001]
  • [Cites] Cancer. 1998 Jul 15;83(2):360-6 [9669820.001]
  • [Cites] Chromosome Res. 1999;7(5):401-6 [10515215.001]
  • [Cites] Nature. 2004 Nov 18;432(7015):396-401 [15549107.001]
  • [Cites] Bioinformatics. 2004 Dec 12;20(18):3636-7 [15201182.001]
  • [Cites] J Neuropathol Exp Neurol. 2005 Apr;64(4):312-22 [15835267.001]
  • [Cites] Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2253-7 [15980208.001]
  • [Cites] Cancer Res. 2005 Jul 1;65(13):5654-61 [15994938.001]
  • [Cites] Ann Neurol. 2005 Sep;58(3):483-7 [16130103.001]
  • [Cites] Vet Pathol. 2005 Sep;42(5):550-8 [16145201.001]
  • [Cites] Genome Res. 2005 Dec;15(12):1831-7 [16339382.001]
  • [Cites] Nature. 2005 Dec 8;438(7069):803-19 [16341006.001]
  • [Cites] J Vet Intern Med. 2006 May-Jun;20(3):669-75 [16734106.001]
  • [Cites] Genes Chromosomes Cancer. 2006 Nov;45(11):995-1006 [16897744.001]
  • [Cites] Mol Cancer. 2006;5:39 [17002787.001]
  • [Cites] Cancer Res. 2006 Oct 15;66(20):9852-61 [17047046.001]
  • [Cites] Genes Chromosomes Cancer. 2007 Apr;46(4):327-35 [17243164.001]
  • [Cites] Int J Cancer. 2007 Jun 1;120(11):2368-76 [17285580.001]
  • [Cites] Cancer Res. 2007 May 15;67(10):4541-4 [17510377.001]
  • [Cites] Leuk Res. 2007 Sep;31(9):1219-30 [17161458.001]
  • [Cites] Neuro Oncol. 2007 Jul;9(3):245-58 [17522335.001]
  • [Cites] Acta Neuropathol. 2007 Aug;114(2):97-109 [17618441.001]
  • [Cites] Genes Chromosomes Cancer. 2007 Oct;46(10):875-94 [17620294.001]
  • [Cites] J Hered. 2007;98(5):474-84 [17702974.001]
  • [Cites] J Neurooncol. 2007 Nov;85(2):133-48 [17874037.001]
  • [Cites] Br J Cancer. 2007 Nov 19;97(10):1416-24 [17940511.001]
  • [Cites] Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):20007-12 [18077431.001]
  • [Cites] Lancet Neurol. 2008 Jan;7(1):14-6 [18093552.001]
  • [Cites] Oncogene. 2008 Jan 31;27(6):803-10 [17667943.001]
  • [Cites] Chromosome Res. 2008;16(1):145-54 [18293109.001]
  • [Cites] Int J Cancer. 2008 Apr 15;122(8):1778-86 [18076069.001]
  • [Cites] Cytogenet Genome Res. 2008;120(1-2):50-60 [18467825.001]
  • [Cites] J Vet Intern Med. 2008 May-Jun;22(3):586-95 [18466258.001]
  • [Cites] Clin Neurosurg. 2007;54:4-9 [18504889.001]
  • [Cites] J Neurooncol. 2008 Jul;88(3):293-8 [18345516.001]
  • [Cites] J Clin Oncol. 2000 Feb;18(3):636-45 [10653879.001]
  • (PMID = 19333554.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / NS051190-01; United States / NINDS NIH HHS / NS / R21 NS051190; United States / NINDS NIH HHS / NS / R21 NS051190-01; United States / NINDS NIH HHS / NS / NS051190; United Kingdom / Wellcome Trust / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS183408; NLM/ PMC3225023
  •  go-up   go-down


14. Reinders JW, Koehler PJ: [Familial schwannomatosis, a new entity distinct from neurofibromatosis type 1 and 2]. Ned Tijdschr Geneeskd; 2007 Aug 25;151(34):1891-5
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Familial schwannomatosis, a new entity distinct from neurofibromatosis type 1 and 2].
  • [Transliterated title] Familiaire schwannomatose, een nieuwe entiteit te onderscheiden van neurofibromatose 1 en 2.
  • A Dutch family was diagnosed with familial schwannomatosis, a disorder that is distinct from neurofibromatosis (NF) type 1 and 2.
  • The proband and 4 relatives had schwannomas on spinal roots, cranial nerves, plexuses, and peripheral nerves; no vestibular schwannomas were found.
  • None of the living affected relatives had genomic defects affecting the NF2 gene.
  • [MeSH-major] Neurilemmoma / diagnosis. Neurilemmoma / genetics. Spinal Cord Neoplasms / diagnosis. Spinal Cord Neoplasms / genetics
  • [MeSH-minor] Adult. Diagnosis, Differential. Female. Germ-Line Mutation. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Neurofibromatoses / diagnosis. Neurofibromatoses / genetics. Neurofibromatoses / pathology. Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Pedigree


15. Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, Budach W, Bölke E: Neurofibromatosis. Eur J Med Res; 2009 Mar 17;14(3):102-5
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis.
  • Neurofibromatosis (NF) is one of the most common genetic disorders.
  • Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system.
  • Neurofibromatosis type 1 (NF1), also referred to as Recklinghausen's disease, affects about 1 in 3500 individuals and presents with a variety of characteristic abnormalities of the skin and the peripheral nervous system.
  • Neurofibromatosis type 2 (NF2), previously termed central neurofibromatosis, is much more rare occurring in less than 1 in 25 000 individuals.
  • Often first clinical signs of NF2 become apparent in the late teens with a sudden loss of hearing due to the development of bi- or unilateral vestibular schwannomas.
  • In addition NF2 patients may suffer from further nervous tissue tumors such as meningiomas or gliomas.
  • This review summarizes the characteristic features of the two forms of NF and outlines commonalities and distinctions between NF1 and NF2.
  • [MeSH-major] Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / pathology

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Neurologist. 2006 Mar;12(2):86-93 [16534445.001]
  • [Cites] N Engl J Med. 2005 Apr 28;352(17):1799 [15858189.001]
  • [Cites] Lancet Neurol. 2007 Apr;6(4):340-51 [17362838.001]
  • [Cites] J Cell Biol. 2007 Jun 4;177(5):893-903 [17548515.001]
  • [Cites] World J Gastroenterol. 2007 Jun 28;13(24):3384-7 [17659681.001]
  • [Cites] Annu Rev Pathol. 2007;2:191-216 [18039098.001]
  • [Cites] Biochim Biophys Acta. 2008 Jan;1785(1):32-54 [17980164.001]
  • [Cites] Semin Ophthalmol. 2008 Jan-Feb;23(1):45-51 [18214791.001]
  • [Cites] Hum Pathol. 2008 May;39(5):633-40 [18439936.001]
  • [Cites] Nat Clin Pract Oncol. 2008 Aug;5(8):487-91 [18560388.001]
  • [Cites] Lancet. 2008 Aug 23;372(9639):639-45 [18722868.001]
  • [Cites] Cancer. 2009 Jan 15;115(2):390-8 [19109818.001]
  • [Cites] Ment Retard Dev Disabil Res Rev. 2000;6(2):117-24 [10899804.001]
  • [Cites] Am J Med Genet. 2000 Summer;97(2):119-27 [11180219.001]
  • [Cites] CMAJ. 2002 Aug 6;167(3):282-3 [12186179.001]
  • [Cites] Curr Opin Neurol. 2003 Feb;16(1):27-33 [12544854.001]
  • [Cites] Hum Mutat. 2003 Nov;22(5):420 [14517963.001]
  • [Cites] Genes Chromosomes Cancer. 2003 Dec;38(4):389-99 [14566860.001]
  • [Cites] Neurobiol Dis. 2004 Jun;16(1):85-91 [15207265.001]
  • [Cites] N Engl J Med. 1981 Dec 31;305(27):1617-27 [6796886.001]
  • [Cites] Am J Hum Genet. 1989 Jan;44(1):20-4 [2491776.001]
  • [Cites] Science. 1990 Jul 13;249(4965):181-6 [2134734.001]
  • [Cites] Neurosurgery. 1997 Apr;40(4):696-705; discussion 705-6 [9092842.001]
  • [Cites] JAMA. 1997 Jul 2;278(1):51-7 [9207339.001]
  • [Cites] J Neurooncol. 2007 Apr;82(2):187-92 [17111191.001]
  • (PMID = 19380279.001).
  • [ISSN] 0949-2321
  • [Journal-full-title] European journal of medical research
  • [ISO-abbreviation] Eur. J. Med. Res.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 25
  • [Other-IDs] NLM/ PMC3352057
  •  go-up   go-down


16. Darken RS, Bogitch R, Leonard J, Perry A, McKinstry RC, Gutmann DH, Rubin JB: Brainstem glioma presenting as pruritus in children with neurofibromatosis-1. J Pediatr Hematol Oncol; 2009 Dec;31(12):972-6
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Brainstem glioma presenting as pruritus in children with neurofibromatosis-1.
  • Children with neurofibromatosis type 1 (NF1) are at increased risk of developing tumors of the nervous system.
  • [MeSH-major] Brain Stem Neoplasms / diagnosis. Glioma / diagnosis. Neurofibromatosis 1 / diagnosis. Pruritus / diagnosis
  • [MeSH-minor] Child. Child, Preschool. Combined Modality Therapy. Diagnosis, Differential. Humans. Magnetic Resonance Imaging. Male. Prognosis

  • Genetic Alliance. consumer health - Glioma.
  • Genetic Alliance. consumer health - Neurofibromatosis.
  • MedlinePlus Health Information. consumer health - Itching.
  • COS Scholar Universe. author profiles.
  • Xenbase. Xenbase .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19935099.001).
  • [ISSN] 1536-3678
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


17. McLaughlin ME, Kruger GM, Slocum KL, Crowley D, Michaud NA, Huang J, Magendantz M, Jacks T: The Nf2 tumor suppressor regulates cell-cell adhesion during tissue fusion. Proc Natl Acad Sci U S A; 2007 Feb 27;104(9):3261-6
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The Nf2 tumor suppressor regulates cell-cell adhesion during tissue fusion.
  • We found that in the mouse embryo, expression of the Nf2 tumor suppressor, merlin, is dynamically regulated during tissue fusion: Nf2 expression is low at the leading front before fusion and high across the fused tissue bridge.
  • Mosaic Nf2 mutants exhibit a global defect in tissue fusion characterized by ectopic detachment and increased detachment-induced apoptosis (anoikis).
  • Our work reveals that regulation of Nf2 expression is a previously unrecognized means of controlling adhesion at the leading front, thereby ensuring successful tissue fusion.

  • COS Scholar Universe. author profiles.
  • Addgene Non-profit plasmid repository. clones/clone libraries - Get Article's Plasmids - Addgene (subscription/membership/fee required).
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • eagle-i research resources. PMID 17360635 (Special Collections) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Genes Dev. 1999 Dec 1;13(23):3136-48 [10601039.001]
  • [Cites] Nat Cell Biol. 2004 Jan;6(1):21-30 [14647292.001]
  • [Cites] Dev Biol. 2000 Jun 15;222(2):296-306 [10837119.001]
  • [Cites] MMWR Morb Mortal Wkly Rep. 2004 May 7;53(17):362-5 [15129193.001]
  • [Cites] Arch Ophthalmol. 2004 Jul;122(7):1002-11 [15249365.001]
  • [Cites] Z Zellforsch Mikrosk Anat. 1971;115(2):226-64 [4102323.001]
  • [Cites] Anat Rec. 1977 Dec;189(4):625-40 [596653.001]
  • [Cites] Cell. 1993 Mar 12;72(5):791-800 [8453669.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Methods Enzymol. 1993;225:361-73 [8231863.001]
  • [Cites] J Anat. 1993 Aug;183 ( Pt 1):121-9 [8270467.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):185-92 [8162073.001]
  • [Cites] Dev Biol. 1996 Dec 15;180(2):664-79 [8954735.001]
  • [Cites] Curr Biol. 1997 Apr 1;7(4):281-4 [9094312.001]
  • [Cites] Genes Dev. 1997 May 15;11(10):1253-65 [9171370.001]
  • [Cites] Mol Cell Neurosci. 1998 Jul;11(4):183-93 [9675050.001]
  • [Cites] Cell. 1999 Jul 23;98(2):147-57 [10428027.001]
  • [Cites] Dev Dyn. 2005 Jun;233(2):528-39 [15844200.001]
  • [Cites] Proc Natl Acad Sci U S A. 2005 Sep 6;102(36):12843-8 [16126904.001]
  • [Cites] Genes Dev. 2005 Oct 1;19(19):2265-77 [16204178.001]
  • [Cites] J Cell Biol. 2005 Oct 24;171(2):361-71 [16247032.001]
  • [Cites] Nat Cell Biol. 2006 Jan;8(1):27-36 [16341207.001]
  • [Cites] Curr Biol. 2006 Apr 4;16(7):702-9 [16581517.001]
  • [Cites] Dev Biol. 2006 Jul 15;295(2):647-63 [16712836.001]
  • [Cites] Dev Dyn. 2006 Oct;235(10):2771-85 [16894610.001]
  • [Cites] J Biol Chem. 2007 Jan 12;282(2):1225-37 [17090534.001]
  • [Cites] Genes Dev. 2000 Jul 1;14(13):1617-30 [10887156.001]
  • [Cites] J Neurosci. 2001 Feb 1;21(3):788-97 [11157065.001]
  • [Cites] Genomics. 2002 Jan;79(1):63-76 [11827459.001]
  • [Cites] Neurology. 2002 Jun 25;58(12):1849-52 [12084890.001]
  • [Cites] Nat Genet. 2002 Aug;31(4):354-62 [12118253.001]
  • [Cites] Dev Cell. 2002 Aug;3(2):259-70 [12194856.001]
  • [Cites] Curr Opin Cell Biol. 2002 Oct;14(5):569-74 [12231351.001]
  • [Cites] Cancer Res. 2003 Feb 15;63(4):752-5 [12591720.001]
  • [Cites] Nat Rev Mol Cell Biol. 2003 Mar;4(3):225-36 [12612641.001]
  • [Cites] Genes Dev. 2003 May 1;17(9):1090-100 [12695331.001]
  • [Cites] Nat Rev Genet. 2003 Oct;4(10):784-93 [13679871.001]
  • [Cites] Mol Cell. 2003 Oct;12(4):841-9 [14580336.001]
  • [Cites] Dev Biol. 2000 Apr 15;220(2):343-57 [10753521.001]
  • (PMID = 17360635.001).
  • [ISSN] 0027-8424
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA Primers; 0 / Neurofibromin 2
  • [Other-IDs] NLM/ PMC1801999
  •  go-up   go-down


18. Fishbein L, Eady B, Sanek N, Muir D, Wallace MR: Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells. Cancer Genet Cytogenet; 2005 Mar;157(2):181-6
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with the characteristic feature being the neurofibroma.
  • We analyzed the methylation state of the NF1 promoter in normal Schwann cells (the cell type clonally expanded in neurofibromas) and in NF1-related plexiform tumor samples with unidentified somatic mutations.
  • [MeSH-major] DNA Methylation. Genes, Neurofibromatosis 1. Neurofibroma, Plexiform / metabolism. Schwann Cells / metabolism

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15721644.001).
  • [ISSN] 0165-4608
  • [Journal-full-title] Cancer genetics and cytogenetics
  • [ISO-abbreviation] Cancer Genet. Cytogenet.
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / 1R01 NS34780; United States / NINDS NIH HHS / NS / 1R29 NS31550; United States / NCI NIH HHS / CA / T32-CA01926-22
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 8J337D1HZY / Cytosine
  •  go-up   go-down


19. Mastrangelo M, Mariani R, Spalice A, Ruggieri M, Iannetti P: Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria. Acta Paediatr; 2009 Apr;98(4):760-2
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.
  • The association of brain malformations and symptomatic epilepsy in the setting of neurofibromatosis type 1 (NF1) is rarely reported.
  • We report on a 10-year-old (molecularly proven) NF1 girl manifesting a complex epileptic syndrome resembling the Foix-Chavany-Marie spectrum (also known as opercular syndrome) associated with bilateral (opercular and paracentral lobular) polymicrogyria (PMG).
  • The typical clinical opercular syndrome consisting in mild mental retardation, epilepsy and pseudobulbar palsy is usually associated to bilateral perisylvian PMG (BPP) CONCLUSION: To the best of our knowledge, the complex epileptic syndrome hereby reported has not been previously recorded in the setting of NF1.
  • [MeSH-major] Epilepsy, Frontal Lobe / diagnosis. Malformations of Cortical Development / diagnosis. Neurofibromatosis 1 / diagnosis


20. Mendonça CT: Regarding "Endovascular treatment of contained rupture of a superior mesenteric artery aneurysm resulting from neurofibromatosis type I". J Vasc Surg; 2010 Nov;52(5):1425
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Regarding "Endovascular treatment of contained rupture of a superior mesenteric artery aneurysm resulting from neurofibromatosis type I".
  • [MeSH-major] Aneurysm, Ruptured / therapy. Blood Vessel Prosthesis Implantation. Embolization, Therapeutic. Endoleak / therapy. Endovascular Procedures. Mesenteric Artery, Superior / surgery. Neurofibromatosis 1 / complications

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentOn] J Vasc Surg. 2010 Feb;51(2):461-4 [19833474.001]
  • (PMID = 21050994.001).
  • [ISSN] 1097-6809
  • [Journal-full-title] Journal of vascular surgery
  • [ISO-abbreviation] J. Vasc. Surg.
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] United States
  •  go-up   go-down


21. Barski D, Wolter M, Reifenberger G, Riemenschneider MJ: Hypermethylation and transcriptional downregulation of the TIMP3 gene is associated with allelic loss on 22q12.3 and malignancy in meningiomas. Brain Pathol; 2010 May;20(3):623-31
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We performed direct sodium bisulfite sequencing in a series of 50 meningiomas, including 27 benign meningiomas [World Health Organization (WHO) grade I], 11 atypical meningiomas (WHO grade II) and 12 anaplastic meningiomas (WHO grade III), and found hypermethylation of TIMP3 in 67% of anaplastic meningiomas, but only 22% of atypical and 17% of benign meningiomas.
  • TIMP3 is located in the chromosomal band 22q12, the allelic loss of which occurs early in meningioma tumorigenesis and preferentially targets the NF2 tumor suppressor gene.
  • Thus, TIMP3 inactivation by methylation seems fairly exclusive to meningiomas with allelic losses on 22q12 but--in contrast to NF2 mutation--appears to be involved in meningioma progression as it is associated with a more aggressive, high-grade meningioma phenotype.
  • [MeSH-minor] Aged. Aged, 80 and over. Cell Line, Tumor. Disease Progression. Down-Regulation / genetics. Humans. Male. Middle Aged

  • The Lens. Cited by Patents in .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19922547.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / TIMP3 protein, human; 0 / Tissue Inhibitor of Metalloproteinase-3
  •  go-up   go-down


22. Shen Y, Nunes F, Stemmer-Rachamimov A, James M, Mohapatra G, Plotkin S, Betensky RA, Engler DA, Roy J, Ramesh V, Gusella JF: Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas. BMC Med Genomics; 2009 Jul 09;2:42
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas.
  • BACKGROUND: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with no family history.
  • Meningiomas in NF2 and approximately 60% of sporadic meningiomas involve inactivation of the NF2 locus, encoding the tumor suppressor merlin on chromosome 22q.
  • This study was undertaken to establish whether genomic profiling could distinguish familial multiple meningiomas from sporadic solitary and sporadic multiple meningiomas.
  • METHODS: We compared 73 meningiomas presenting as sporadic solitary (64), sporadic multiple (5) and familial multiple (4) tumors using genomic profiling by array comparative genomic hybridization (array CGH).
  • RESULTS: Sporadic solitary meningiomas revealed genomic rearrangements consistent with at least two mechanisms of tumor initiation, as unsupervised cluster analysis readily distinguished tumors with chromosome 22 deletion (associated with loss of the NF2 tumor suppressor) from those without chromosome 22 deletion.
  • Whereas sporadic meningiomas without chromosome 22 loss exhibited fewer chromosomal imbalance events overall, tumors with chromosome 22 deletion further clustered into two major groups that largely, though not perfectly, matched with their benign (WHO Grade I) or advanced (WHO Grades II and III) histological grade, with the latter exhibiting a significantly greater degree of genomic imbalance (P < 0.001).
  • By contrast, familial multiple meningiomas displayed no imbalances, supporting a distinct mechanism for the origin for these tumors.
  • Most importantly, the striking difference observed between sporadic and familial multiple meningiomas indicates that genomic profiling can provide valuable information for differential diagnosis of subjects with multiple meningiomas and for considering the risk for tumor occurrence in their family members.

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Brain Pathol. 2009 Jul;19(3):409-20 [18637901.001]
  • [Cites] Brain Tumor Pathol. 2001;18(1):1-5 [11517968.001]
  • [Cites] J Neurosurg. 2000 Oct;93(2 Suppl):317-21 [11012068.001]
  • [Cites] Nature. 2000 Feb 3;403(6769):503-11 [10676951.001]
  • [Cites] Neurology. 2000 Jan 11;54(1):71-6 [10636128.001]
  • [Cites] Cancer Res. 2005 Apr 1;65(7):2653-61 [15805262.001]
  • [Cites] Int J Cancer. 2005 Mar 20;114(2):249-56 [15540215.001]
  • [Cites] Brain Tumor Pathol. 2004;21(3):127-33 [15696974.001]
  • [Cites] Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17765-70 [15591353.001]
  • [Cites] Bioinformatics. 2004 Dec 12;20(18):3636-7 [15201182.001]
  • [Cites] Science. 1999 Oct 15;286(5439):531-7 [10521349.001]
  • [Cites] Neurosurg Rev. 1997;20(2):117-23 [9226671.001]
  • [Cites] Neurosurgery. 1999 Aug;45(2):409-16 [10449091.001]
  • [Cites] Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):9212-7 [10430922.001]
  • [Cites] Proc Natl Acad Sci U S A. 1999 Jun 8;96(12):6745-50 [10359783.001]
  • [Cites] Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14863-8 [9843981.001]
  • [Cites] J Neurosurg. 1998 Mar;88(3):562-9 [9488313.001]
  • [Cites] Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14719-24 [9405679.001]
  • [Cites] J Neurosurg. 1997 May;86(5):853-8 [9126902.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):180-4 [8162072.001]
  • [Cites] Am J Pathol. 1995 Apr;146(4):827-32 [7717450.001]
  • [Cites] Neurology. 1993 Oct;43(10):2096-8 [8413972.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Cell. 1993 Mar 12;72(5):791-800 [8453669.001]
  • [Cites] Q J Med. 1992 Aug;84(304):603-18 [1484939.001]
  • [Cites] J Neurol. 1992 Jul;239(6):343-4 [1512611.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 1986 Apr;49(4):362-8 [3084711.001]
  • [Cites] Surg Neurol. 1989 Apr;31(4):255-60 [2928917.001]
  • [Cites] J Neurosurg. 1989 Jan;70(1):41-4 [2909686.001]
  • [Cites] Surg Neurol. 1987 Apr;27(4):319-22 [3824137.001]
  • [Cites] Neurology. 1990 Feb;40(2):312-4 [2300254.001]
  • [Cites] Neurosurgery. 1980 Sep;7(3):262-4 [6782502.001]
  • [Cites] Biostatistics. 2004 Oct;5(4):557-72 [15475419.001]
  • [Cites] Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9067-72 [15199222.001]
  • [Cites] Neurology. 2004 May 25;62(10):1904-5 [15159511.001]
  • [Cites] Eur J Hum Genet. 2008 Dec;16(12):1450-8 [18628790.001]
  • [Cites] Clin Neuropathol. 2008 Sep-Oct;27(5):334-45 [18808065.001]
  • [Cites] Curr Med Chem. 2008;15(8):826-33 [18393851.001]
  • [Cites] Semin Radiat Oncol. 2008 Apr;18(2):98-104 [18314064.001]
  • [Cites] Int J Cancer. 2008 Apr 15;122(8):1778-86 [18076069.001]
  • [Cites] Mol Cancer. 2007;6:64 [17937814.001]
  • [Cites] BMC Genomics. 2007;8:16 [17222329.001]
  • [Cites] Am J Clin Pathol. 2005 May;123(5):744-51 [15981814.001]
  • [Cites] Lancet Neurol. 2006 Dec;5(12):1045-54 [17110285.001]
  • [Cites] J Neuropathol Exp Neurol. 2006 May;65(5):445-54 [16772868.001]
  • [Cites] J Pathol. 2006 Mar;208(4):564-73 [16353169.001]
  • [Cites] Cancer Genet Cytogenet. 2005 Oct 15;162(2):135-9 [16213361.001]
  • [Cites] Eur J Cancer. 2004 May;40(7):1082-94 [15093586.001]
  • [Cites] Cancer Res. 2003 Sep 1;63(17):5352-6 [14500367.001]
  • [Cites] Int J Cancer. 2003 Feb 10;103(4):483-8 [12478663.001]
  • [Cites] Am J Pathol. 2002 Aug;161(2):665-72 [12163391.001]
  • [Cites] Acta Neurol Belg. 2002 Jun;102(2):53-62 [12161900.001]
  • [Cites] N Engl J Med. 2001 Jan 11;344(2):114-23 [11150363.001]
  • (PMID = 19589153.001).
  • [ISSN] 1755-8794
  • [Journal-full-title] BMC medical genomics
  • [ISO-abbreviation] BMC Med Genomics
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / P01 NS024279
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2716362
  •  go-up   go-down


23. Suárez C, Sevilla MA, Llorente JL: Temporal paragangliomas. Eur Arch Otorhinolaryngol; 2007 Jul;264(7):719-31
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Temporal paragangliomas (PGL) are usually limited to the paraganglionar system with a sporadic or familial origin.
  • Familial PGL have recently been shown to be associated with germline alterations in SDH group of genes, and occasionally are associated with a variety of genetic multisystemic disorders (von Hippel-Lindau disease, multiple endocrine neoplasia type 2 and neurofibromatosis type 1).
  • For more extensive disease in the middle ear or around the ICA, external auditory canal preservation is not possible and some kind of facial nerve mobilization is required.
  • [MeSH-minor] Angiography. Combined Modality Therapy. Diagnosis, Differential. Humans. Magnetic Resonance Imaging. Prognosis. Temporal Bone. Tomography, X-Ray Computed

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [CommentIn] Eur Arch Otorhinolaryngol. 2007 Jul;264(7):711-2 [17492456.001]
  • [Cites] Otol Neurotol. 2004 Sep;25(5):797-804 [15354014.001]
  • [Cites] Laryngoscope. 1993 Nov;103(11 Pt 2 Suppl 60):29-44 [8231591.001]
  • [Cites] Otolaryngol Clin North Am. 2001 Oct;34(5):925-39, vi [11557447.001]
  • [Cites] Laryngoscope. 1990 Jan;100(1):85-8 [2293705.001]
  • [Cites] Laryngoscope. 1999 Jan;109(1):30-4 [9917036.001]
  • [Cites] Head Neck. 1998 Oct;20(7):609-13 [9744460.001]
  • [Cites] Otol Neurotol. 2004 Jul;25(4):570-9; discussion 579 [15241237.001]
  • [Cites] Otolaryngol Clin North Am. 2001 Oct;34(5):941-70, vii [11557448.001]
  • [Cites] Laryngoscope. 1994 Aug;104(8 Pt 1):917-21 [8052073.001]
  • [Cites] J Med Genet. 2002 Mar;39(3):178-83 [11897817.001]
  • [Cites] Otolaryngol Head Neck Surg. 2000 Mar;122(3):358-62 [10699810.001]
  • [Cites] Acta Otorrinolaringol Esp. 2007 Mar;58(3):94-100 [17371691.001]
  • [Cites] Neurosurg Focus. 2004 Aug 15;17(2):E5 [15329020.001]
  • [Cites] JAMA. 2004 Aug 25;292(8):943-51 [15328326.001]
  • [Cites] Otolaryngol Clin North Am. 2001 Oct;34(5):829-36, v [11557441.001]
  • [Cites] Head Neck. 2003 Feb;25(2):146-51 [12509798.001]
  • [Cites] J Laryngol Otol. 1978 Nov;92(11):949-67 [213516.001]
  • [Cites] Laryngoscope. 1993 Nov;103(11 Pt 2 Suppl 60):65-70 [8231595.001]
  • [Cites] Laryngoscope. 2006 May;116(5):742-6 [16652081.001]
  • [Cites] J Clin Endocrinol Metab. 2001 Nov;86(11):5210-6 [11701678.001]
  • [Cites] Acta Otolaryngol. 1981 May-Jun;91(5-6):589-93 [6267872.001]
  • [Cites] Ann Otol Rhinol Laryngol. 1992 Aug;101(8):635-42 [1497267.001]
  • [Cites] Skull Base Surg. 1991;1(4):240-4 [17170842.001]
  • [Cites] Laryngoscope. 1985 Mar;95(3):284-8 [2983157.001]
  • [Cites] Arch Otolaryngol Head Neck Surg. 1998 Oct;124(10):1133-40 [9776192.001]
  • [Cites] J Neurosurg. 1994 Jun;80(6):1026-38 [8189258.001]
  • [Cites] Otolaryngol Clin North Am. 1984 Aug;17(3):513-52 [6091018.001]
  • [Cites] Fam Cancer. 2005;4(1):55-9 [15883711.001]
  • [Cites] Am J Hum Genet. 2001 Jul;69(1):49-54 [11404820.001]
  • [Cites] Nat Genet. 2000 Nov;26(3):268-70 [11062460.001]
  • [Cites] J Laryngol Otol. 1997 Jan;111(1):83-8 [9292143.001]
  • [Cites] Neurosurgery. 1996 Mar;38(3):569-75; discussion 575 [8837811.001]
  • [Cites] Cancer. 2000 Jun 15;88(12 ):2811-6 [10870065.001]
  • [Cites] Head Neck. 2002 Apr;24(4):384-9 [11933180.001]
  • [Cites] Acta Neurochir (Wien). 2002 Dec;144(12):1255-64; discussion 1264 [12478336.001]
  • [Cites] Eur J Nucl Med Mol Imaging. 2003 May;30(5):689-94 [12618904.001]
  • [Cites] Ann N Y Acad Sci. 2002 Sep;970:170-6 [12381552.001]
  • [Cites] Am J Otol. 1996 May;17(3):425-37 [8817021.001]
  • [Cites] J Neurosurg. 2002 Dec;97(6):1356-66 [12507134.001]
  • [Cites] Science. 2000 Feb 4;287(5454):848-51 [10657297.001]
  • [Cites] Mayo Clin Proc. 1999 Jun;74(6):543-52 [10377927.001]
  • [Cites] Otolaryngol Clin North Am. 2001 Oct;34(5):1007-20, vii-viii [11557452.001]
  • [Cites] Laryngoscope. 1998 Feb;108(2):228-31 [9473073.001]
  • [Cites] Laryngoscope. 1999 Apr;109(4):577-83 [10201744.001]
  • [Cites] Int J Radiat Oncol Biol Phys. 1992;22(5):919-24 [1313406.001]
  • [Cites] Otolaryngol Clin North Am. 2001 Oct;34(5):907-24, vi [11557446.001]
  • [Cites] J Clin Oncol. 2004 Dec 15;22(24):4991-5004 [15611513.001]
  • (PMID = 17333230.001).
  • [ISSN] 0937-4477
  • [Journal-full-title] European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
  • [ISO-abbreviation] Eur Arch Otorhinolaryngol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 47
  •  go-up   go-down


24. Neary WJ, Hillier VF, Flute T, Stephens SD, Ramsden RT, Evans DG: The relationship between patients' perception of the effects of neurofibromatosis type 2 and the domains of the Short Form-36. Clin Otolaryngol; 2010 Aug;35(4):291-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The relationship between patients' perception of the effects of neurofibromatosis type 2 and the domains of the Short Form-36.
  • OBJECTIVES: To investigate the relationship between those issues concerning quality of life in patients with neurofibromatosis type 2 (NF2) as identified by the closed set NF2 questionnaire and the eight norm-based measures and the physical component summary (PCS) and mental component summary (MCS) scores of the Short Form-36 (SF-36) Questionnaire.
  • PARTICIPANTS: Eighty-seven adult subjects under the care of the Manchester Multidisciplinary NF2 Clinic were invited to participate.
  • MAIN OUTCOME MEASURES: Sixty-two (71%) completed sets of closed set NF2 questionnaires and SF-36 questionnaires were returned.
  • RESULTS: Subjects with NF2 scored less than the norm of 50 on both the physical component summary and mental component summary scores and the eight individual norm-based measures of the Short Form-36 questionnaire.
  • CONCLUSIONS: The Short Form-36 questionnaire has allowed us to relate patients' perceptions of their difficulties, as identified by the closed set NF2 questionnaire, to the physical and mental domains measured by this validated and widely used scale, and has provided further insight into areas of functioning affected by NF2.
  • [MeSH-major] Mental Health. Neurofibromatosis 2 / psychology. Perception / physiology. Quality of Life / psychology. Surveys and Questionnaires / standards

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 2.
  • MedlinePlus Health Information. consumer health - Mental Health.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20738338.001).
  • [ISSN] 1749-4486
  • [Journal-full-title] Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
  • [ISO-abbreviation] Clin Otolaryngol
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] England
  •  go-up   go-down


25. Nagato T, Katada A, Yoshizaki T, Kunibe I, Takahara M, Katayama A, Hayashi T, Harabuchi Y: Laryngeal plexiform schwannoma as first symptom in a patient with neurofibromatosis type 2. Clin Neurol Neurosurg; 2010 Jul;112(6):505-8
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Laryngeal plexiform schwannoma as first symptom in a patient with neurofibromatosis type 2.
  • Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by bilateral vestibular schwannomas.
  • The initial symptoms of NF2 are usually hearing loss and tinnitus caused by vestibular schwannomas.
  • Although other intracranial, spinal, or skin tumors also occur in NF2, laryngeal lesions are very rare.
  • We report a rare case of NF2 with laryngeal plexiform schwannoma as first symptom.
  • No typical symptoms related to NF2 were identified.
  • Histologically, the laryngeal tumor represented plexiform schwannoma.
  • NF2 was suspected, as a high incidence of multiple plexiform schwannomas has been suggested for patients with NF2.
  • MRI of brain lesions demonstrated bilateral vestibular schwannomas and multiple meningiomas.
  • Finally, NF2 with laryngeal plexiform schwannoma was diagnosed.
  • Recognizing that multiple plexiform schwannomas could be associated with NF2 is important.
  • [MeSH-major] Laryngeal Neoplasms / pathology. Neurilemmoma / pathology. Neurofibromatosis 2 / pathology

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 2.
  • Genetic Alliance. consumer health - Schwannoma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Copyright 2010 Elsevier B.V. All rights reserved.
  • (PMID = 20303213.001).
  • [ISSN] 1872-6968
  • [Journal-full-title] Clinical neurology and neurosurgery
  • [ISO-abbreviation] Clin Neurol Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
  •  go-up   go-down


26. Yeh TH, Lee DY, Gianino SM, Gutmann DH: Microarray analyses reveal regional astrocyte heterogeneity with implications for neurofibromatosis type 1 (NF1)-regulated glial proliferation. Glia; 2009 Aug 15;57(11):1239-49
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Microarray analyses reveal regional astrocyte heterogeneity with implications for neurofibromatosis type 1 (NF1)-regulated glial proliferation.
  • Numerous studies have suggested that astrocytes in the central nervous system (CNS) exhibit molecular and functional heterogeneity.
  • However, the relevance of these differences to human disease is unclear.
  • Interestingly, neurofibromatosis type 1 (NF1) gene expression was decreased at both the RNA and protein levels in neocortical astroglia relative to astroglia from the other brain regions.
  • To determine the functional significance of this finding, we found increased astroglial cell proliferation in optic nerve, brainstem, and cerebellum, but not neocortex, following Nf1 inactivation in vitro and in vivo.

  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Proc Natl Acad Sci U S A. 1990 Dec;87(24):9833-7 [2263634.001]
  • [Cites] Brain Res. 1990 May 28;517(1-2):202-8 [2375990.001]
  • [Cites] Brain Res. 1992 Jan 13;569(2):300-10 [1540832.001]
  • [Cites] Am J Clin Pathol. 1992 Mar;97(3):398-401 [1543164.001]
  • [Cites] Brain Pathol. 1993 Jul;3(3):283-95 [8293188.001]
  • [Cites] Glia. 1994 Aug;11(4):315-25 [7960035.001]
  • [Cites] Brain Res Mol Brain Res. 1995 Dec 28;34(2):209-20 [8750824.001]
  • [Cites] J Neurosci. 1997 Dec 1;17(23):9212-9 [9364068.001]
  • [Cites] J Neuroimmunol. 1998 Jul 1;87(1-2):179-84 [9670860.001]
  • [Cites] Histopathology. 1999 Apr;34(4):342-56 [10231402.001]
  • [Cites] Eye (Lond). 2004 Nov;18(11):1110-21 [15534596.001]
  • [Cites] J Neurooncol. 2007 Jan;81(2):191-6 [16850101.001]
  • [Cites] Cancer Res. 2007 Feb 1;67(3):890-900 [17283119.001]
  • [Cites] Cancer Res. 2007 May 15;67(10):4790-9 [17510408.001]
  • [Cites] Cancer Res. 2007 Sep 15;67(18):8588-95 [17875698.001]
  • [Cites] Cancer Res. 2008 Mar 1;68(5):1520-8 [18316617.001]
  • [Cites] Brain Res. 2000 Dec 29;887(2):250-8 [11134613.001]
  • [Cites] Trends Neurosci. 2001 Jan;24(1):39-47 [11163886.001]
  • [Cites] Genes Dev. 2001 Apr 1;15(7):859-76 [11297510.001]
  • [Cites] Methods. 2001 Dec;25(4):402-8 [11846609.001]
  • [Cites] Am J Surg Pathol. 2002 Apr;26(4):479-85 [11914626.001]
  • [Cites] Mol Cell Biol. 2002 Jul;22(14):5100-13 [12077339.001]
  • [Cites] Brain. 2003 Jan;126(Pt 1):152-60 [12477702.001]
  • [Cites] Neurosurgery. 2003 Sep;53(3):544-53; discussion 554-5 [12943571.001]
  • [Cites] J Neurocytol. 2002 Jul-Aug;31(6-7):481-95 [14501218.001]
  • [Cites] J Neurocytol. 2004 May;33(3):345-57 [15475689.001]
  • [Cites] Arch Neurol. 1966 May;14(5):467-75 [4957904.001]
  • [Cites] J Neurosci. 2005 Jun 8;25(23):5584-94 [15944386.001]
  • [Cites] J Neuropathol Exp Neurol. 2005 Jun;64(6):479-89 [15977639.001]
  • [Cites] Nat Rev Cancer. 2005 Jul;5(7):557-64 [16069817.001]
  • [Cites] Pathol Oncol Res. 2006;12(3):164-71 [16998597.001]
  • [Cites] J Neurosci. 1987 Sep;7(9):2737-44 [3305800.001]
  • [Cites] Brain Res Mol Brain Res. 1991 Aug;11(1):65-9 [1722552.001]
  • (PMID = 19191334.001).
  • [ISSN] 1098-1136
  • [Journal-full-title] Glia
  • [ISO-abbreviation] Glia
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / U01-CA84314; United States / NINDS NIH HHS / NS / R21 NS058433; United States / NINDS NIH HHS / NS / R21 NS058433-01; United States / NINDS NIH HHS / NS / NS058433-01; United States / NCI NIH HHS / CA / U01 CA084314
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1
  • [Other-IDs] NLM/ NIHMS94906; NLM/ PMC2706934
  •  go-up   go-down


27. Lane KA, Anninger WV, Katowitz JA: Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with SPRED1 mutation and orbital manifestations: retraction. Ophthal Plast Reconstr Surg; 2010 Mar-Apr;26(2):145
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with SPRED1 mutation and orbital manifestations: retraction.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [RetractionOf] Lane KA, Anninger WV, Katowitz JA. Ophthal Plast Reconstr Surg. 2009 Sep-Oct;25(5):399-401 [19966658.001]
  • (PMID = 20305530.001).
  • [ISSN] 1537-2677
  • [Journal-full-title] Ophthalmic plastic and reconstructive surgery
  • [ISO-abbreviation] Ophthal Plast Reconstr Surg
  • [Language] eng
  • [Publication-type] Retraction of Publication
  • [Publication-country] United States
  •  go-up   go-down


28. Xu J, Ismat FA, Wang T, Yang J, Epstein JA: NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response. Circulation; 2007 Nov 6;116(19):2148-56
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • BACKGROUND: Neurofibromatosis type I (NF1) is a common autosomal dominant disorder with a broad array of clinical manifestations, including benign and malignant tumors, osseous dysplasias, and characteristic cutaneous findings.
  • In animal models, endothelial expression of the disease gene, NF1, is critical for normal heart development.
  • CONCLUSIONS: In this in vivo model of NF1 obstructive vascular disease, we have shown that Nf1 regulation of Ras plays a critical role in vascular smooth muscle proliferation after injury.
  • These results suggest opportunities for targeted therapeutics in the prevention and treatment of NF1-related vascular disease and in the treatment of neointimal proliferation in other settings.
  • [MeSH-major] Muscle, Smooth, Vascular / physiology. Neurofibromatosis 1 / physiopathology. Neurofibromin 1 / metabolism. Vascular Diseases / physiopathology. ras Proteins / metabolism

  • MedlinePlus Health Information. consumer health - Vascular Diseases.
  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17967772.001).
  • [ISSN] 1524-4539
  • [Journal-full-title] Circulation
  • [ISO-abbreviation] Circulation
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / K08 HL075179; United States / NHLBI NIH HHS / HL / R01 HL62974
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1; EC 2.7.- / Protein Kinases; EC 2.7.1.- / Phosphatidylinositol 3-Kinases; EC 2.7.1.1 / TOR Serine-Threonine Kinases; EC 2.7.1.1 / mTOR protein, mouse; EC 2.7.11.24 / Mitogen-Activated Protein Kinases; EC 3.6.5.2 / ras Proteins
  •  go-up   go-down


29. Yi C, Wilker EW, Yaffe MB, Stemmer-Rachamimov A, Kissil JL: Validation of the p21-activated kinases as targets for inhibition in neurofibromatosis type 2. Cancer Res; 2008 Oct 1;68(19):7932-7
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Validation of the p21-activated kinases as targets for inhibition in neurofibromatosis type 2.
  • Neurofibromatosis type 2 (NF2) is a dominantly inherited cancer disorder caused by mutations at the NF2 gene locus.
  • Merlin, the protein product of the NF2 gene, has been shown to negatively regulate Rac1 signaling by inhibiting its downstream effector kinases, the p21-activated kinases (Pak).
  • First, analysis of primary schwannoma samples derived from NF2 patients showed that in a significant fraction of the tumors, the activity of Pak1 was highly elevated.
  • Second, we used shRNAs to knockdown Pak1, 2, and 3 in NIH3T3 cells expressing a dominant-negative form of merlin, NF2(BBA) (NIH3T3/NF2(BBA)), and find that simultaneous knockdown of Pak1-3 in these cells significantly reduced their growth rates in vitro and inhibited their ability to form tumors in vivo.
  • Finally, while attempting to silence Pak1 in rat schwannoma cells, we found that these cells were unable to tolerate long-term Pak1 inhibition and rapidly moved to restore Pak1 levels by shutting down Pak1 shRNA expression through a methylation-dependent mechanism.
  • These data suggest that inhibiting Pak could be a beneficial approach for the development of therapeutics toward NF2.
  • In addition, the finding that the shRNA-mediated Pak1 suppression was silenced rapidly by methylation raises questions about the future application of such technologies for the treatment of diseases such as cancer.

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 2.
  • COS Scholar Universe. author profiles.
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • The Lens. Cited by Patents in .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Nat Cell Biol. 2000 Sep;2(9):593-600 [10980699.001]
  • [Cites] Cancer Res. 2007 Jan 15;67(2):520-7 [17234759.001]
  • [Cites] J Biol Chem. 2001 May 18;276(20):17347-53 [11278486.001]
  • [Cites] Mol Cell Biol. 2001 Aug;21(15):5179-89 [11438672.001]
  • [Cites] Dev Cell. 2001 Jul;1(1):63-72 [11703924.001]
  • [Cites] J Biol Chem. 2002 Jan 11;277(2):883-6 [11719502.001]
  • [Cites] J Biol Chem. 2002 Mar 22;277(12):10394-9 [11782491.001]
  • [Cites] Oncogene. 2002 Sep 5;21(39):5990-7 [12203111.001]
  • [Cites] Nat Genet. 2003 Mar;33(3):401-6 [12590264.001]
  • [Cites] Hum Mol Genet. 2003 Jun 1;12(11):1211-21 [12761036.001]
  • [Cites] Mol Cell. 2003 Oct;12(4):841-9 [14580336.001]
  • [Cites] Cancer J. 2004 Jan-Feb;10(1):20-6 [15000491.001]
  • [Cites] J Biol Chem. 2004 Apr 30;279(18):18559-66 [14981079.001]
  • [Cites] Mol Cell Biol. 1997 Aug;17(8):4454-64 [9234703.001]
  • [Cites] Mol Cell Biol. 2005 Mar;25(6):2384-94 [15743831.001]
  • [Cites] Adv Genet. 2005;54:117-42 [16096010.001]
  • [Cites] J Neurosci. 2006 Mar 29;26(13):3390-5 [16571745.001]
  • [Cites] Semin Pediatr Neurol. 2006 Mar;13(1):21-6 [16818172.001]
  • [Cites] Nature. 2006 Aug 3;442(7102):576-9 [16885985.001]
  • [Cites] J Biol Chem. 2000 Nov 17;275(46):36238-44 [10945974.001]
  • (PMID = 18829550.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA124495; United States / NCI NIH HHS / CA / F32 CA123752-01; United States / NCI NIH HHS / CA / F32 CA123752-03; United States / NINDS NIH HHS / NS / NS024279-19; United States / NCI NIH HHS / CA / CA101502-02; United States / NINDS NIH HHS / NS / P01 NS024279-19; United States / NCI NIH HHS / CA / CA123752-01; United States / NCI NIH HHS / CA / CA123752-02; United States / NCI NIH HHS / CA / F32 CA101502-02; United States / NCI NIH HHS / CA / CA123752-03; United States / NCI NIH HHS / CA / F32 CA101502; United States / NINDS NIH HHS / NS / P01 NS024279; United States / NCI NIH HHS / CA / F32 CA123752-02; United States / NCI NIH HHS / CA / F32 CA123752
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Validation Studies
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / RNA, Small Interfering; EC 2.7.11.1 / p21-Activated Kinases
  • [Other-IDs] NLM/ NIHMS112457; NLM/ PMC2707059
  •  go-up   go-down


30. Stewart DR, Cogan JD, Kramer MR, Miller WT Jr, Christiansen LE, Pauciulo MW, Messiaen LM, Tu GS, Thompson WH, Pyeritz RE, Ryu JH, Nichols WC, Kodama M, Meyrick BO, Ross DJ: Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy? Chest; 2007 Sep;132(3):798-808
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?
  • BACKGROUND: Neurofibromatosis type 1 (NF1) is a common disorder of dysregulated tissue growth secondary to mutations in the tumor suppressor gene NF1.
  • We performed genetic testing of the bone morphogenic protein receptor 2 (BMPR2) gene, which mutated in 70% of patients with familial PAH and approximately 25% of patients with idiopathic PAH.
  • In four patients, we observed the mosaic pattern of lung attenuation on a CT scan of the chest, a radiographic finding that can be consistent with an underlying vasculopathy.
  • [MeSH-major] Bone Morphogenetic Protein Receptors, Type II / genetics. Hypertension, Pulmonary / etiology. Hypertension, Pulmonary / pathology. Mutation / genetics. Neurofibromatosis 1 / complications
  • [MeSH-minor] Adult. Aged. Female. Genes, Neurofibromatosis 1 / physiology. Humans. Male. Middle Aged


31. Korf BR: Statins, bone, and neurofibromatosis type 1. BMC Med; 2008;6:22
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Statins, bone, and neurofibromatosis type 1.
  • Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder.
  • This month in BMC Medicine, a paper by Kolanczyk et al describes a preclinical mouse model for tibial dysplasia and provides evidence that the drug lovastatin - in use to treat cardiovascular disease - may be beneficial, opening the door to clinical trials in humans.
  • [MeSH-major] Enzyme Activators / pharmacology. Enzyme Activators / therapeutic use. Lovastatin / pharmacology. Lovastatin / therapeutic use. Neurofibromatosis 1 / drug therapy

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. LOVASTATIN .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Hum Mol Genet. 2000 Dec 12;9(20):3055-64 [11115850.001]
  • [Cites] BMC Med. 2008;6:21 [18671844.001]
  • [Cites] J Child Neurol. 2002 Aug;17(8):573-7; discussion 602-4, 646-51 [12403555.001]
  • [Cites] J Child Neurol. 2002 Aug;17(8):622-6; discussion 627-9, 646-51 [12403561.001]
  • [Cites] J Bone Miner Res. 2004 Jun;19(6):983-9 [15125795.001]
  • [Cites] Pathol Biol (Paris). 1998 Nov;46(9):697-8 [9885821.001]
  • [Cites] Am J Med Genet. 1999 Jun 11;84(5):413-9 [10360395.001]
  • [Cites] Bone. 2005 May;36(5):793-802 [15804420.001]
  • [Cites] Osteoporos Int. 2005 Aug;16(8):928-36 [15551055.001]
  • [Cites] Osteoporos Int. 2005 Sep;16(9):1161-6 [15988556.001]
  • [Cites] Curr Biol. 2005 Nov 8;15(21):1961-7 [16271875.001]
  • [Cites] Am J Hum Genet. 2006 Jul;79(1):143-8 [16773574.001]
  • [Cites] Hum Mutat. 2006 Oct;27(10):1030-40 [16941471.001]
  • [Cites] Hum Mol Genet. 2006 Oct 1;15(19):2837-45 [16893911.001]
  • [Cites] Clin Cancer Res. 2006 Sep 15;12(18):5533-42 [17000690.001]
  • [Cites] J Pediatr. 2007 Jan;150(1):83-8 [17188620.001]
  • [Cites] Hum Mol Genet. 2007 Apr 15;16(8):874-86 [17317783.001]
  • [Cites] Acta Paediatr. 2007 Aug;96(8):1220-2 [17608828.001]
  • [Cites] Am J Hum Genet. 2007 Aug;81(2):243-51 [17668375.001]
  • [Cites] JAMA. 2008 Jul 16;300(3):287-94 [18632543.001]
  • [Cites] Nature. 2002 Jan 31;415(6871):526-30 [11793011.001]
  • (PMID = 18671845.001).
  • [ISSN] 1741-7015
  • [Journal-full-title] BMC medicine
  • [ISO-abbreviation] BMC Med
  • [Language] eng
  • [Publication-type] Editorial
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Enzyme Activators; 9LHU78OQFD / Lovastatin
  • [Other-IDs] NLM/ PMC2531128
  •  go-up   go-down


32. Bosch MM, Boltshauser E, Harpes P, Landau K: Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol; 2006 Jun;141(6):1068-1077
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2.
  • PURPOSE: To evaluate ophthalmologic findings and long-term course in patients with neurofibromatosis type 2 (NF2).
  • STUDY POPULATION: Thirty referred patients with NF2 were enrolled from 1991 to 2003 and underwent at least one thorough neuroophthalmologic examination.
  • MAIN OUTCOME MEASURES: Visual function, structural ocular abnormalities, onset and type of presenting NF2-related symptoms, and number of central nervous system tumors.
  • RESULTS: Initial symptoms for patients with early-onset NF2 mostly comprised ophthalmologic symptoms (n = 7) and lower motor neuron extremity weakness (n = 6), as opposed to eighth nerve impairment (n = 11) in late disease onset.
  • NF2-specific ocular findings were noted in 83% of all patients (94% childhood onset; 67% adult onset): 67% had cataracts, 40% epiretinal membranes, 3% hamartoma, 13% disk gliomas, and 27% optic nerve sheath meningiomas.
  • Significantly more patients with early onset of symptoms developed multiple central nervous system tumors (P = .004) and showed a higher amount of NF2-specific findings (P = .015).
  • CONCLUSIONS: Initial manifestations of NF2 differ between children and adults.
  • NF2-specific ophthalmologic findings can help establish the diagnosis.
  • Symptom onset at a young age is clearly a risk factor for marked disease progression.
  • These patients should be carefully followed because survival rates have increased, and vision becomes increasingly important as the disease progresses.
  • [MeSH-major] Eye Diseases / diagnosis. Neurofibromatosis 2 / diagnosis
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Disease Progression. Female. Follow-Up Studies. Humans. Magnetic Resonance Imaging. Male. Middle Aged. Phenotype. Retrospective Studies. Visual Acuity


33. Pawlu C, Bausch B, Reisch N, Neumann HP: Genetic testing for pheochromocytoma-associated syndromes. Ann Endocrinol (Paris); 2005 Jun;66(3):178-85
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Various syndromes have been found to be associated with the development of pheochromocytomas and paragangliomas: multiple endocrine neoplasia type 2 (MEN 2, susceptibility gene: RET), von Hippel-Lindau disease (VHL, susceptibility gene: VHL), neurofibromatosis 1 (NF 1), and paraganglioma syndromes type 1, 3, and 4 (susceptibility genes: succinate dehydrogenase gene, SDH, subunits D, C and B, respectively).
  • [MeSH-major] Adrenal Gland Neoplasms / genetics. Multiple Endocrine Neoplasia Type 2a / genetics. Mutation. Pheochromocytoma / genetics
  • [MeSH-minor] Genes, Neurofibromatosis 1. Humans. Neurofibromatoses / genetics. Oncogene Proteins / genetics. Proto-Oncogene Proteins c-ret. Receptor Protein-Tyrosine Kinases / genetics. Thyroid Neoplasms / genetics. Tumor Suppressor Proteins / genetics. Ubiquitin-Protein Ligases / genetics. Von Hippel-Lindau Tumor Suppressor Protein

  • Genetic Alliance. consumer health - Pheochromocytoma.
  • MedlinePlus Health Information. consumer health - Adrenal Gland Cancer.
  • MedlinePlus Health Information. consumer health - Pheochromocytoma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15988378.001).
  • [ISSN] 0003-4266
  • [Journal-full-title] Annales d'endocrinologie
  • [ISO-abbreviation] Ann. Endocrinol. (Paris)
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Oncogene Proteins; 0 / Tumor Suppressor Proteins; EC 2.7.10.1 / Proto-Oncogene Proteins c-ret; EC 2.7.10.1 / RET protein, human; EC 2.7.10.1 / Receptor Protein-Tyrosine Kinases; EC 6.3.2.19 / Ubiquitin-Protein Ligases; EC 6.3.2.19 / VHL protein, human; EC 6.3.2.19 / Von Hippel-Lindau Tumor Suppressor Protein
  • [Number-of-references] 43
  •  go-up   go-down


34. Beltrán MA, Barría C, Contreras MA, Wilson CS, Cruces KS: [Gastrointestinal stromal tumor (GIST) in a patient with neurofibromatosis type 1. Report of one case]. Rev Med Chil; 2009 Sep;137(9):1197-200
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Gastrointestinal stromal tumor (GIST) in a patient with neurofibromatosis type 1. Report of one case].
  • [Transliterated title] Tumor del estroma gastrointestinal (GIST) en una paciente con neurofibromatosis tipo 1.
  • Neurofibromatosis Type 1 (NF1) is an autosomic dominant condition affecting the central nervous system and presenting a disposition towards development of gastrointestinal stromal tumors (GIST).
  • We report a 38 year-old female patient with neurofibromatosis type 1 that required emergency surgery due to a perforated GIST originating in the fourth duodenal portion.
  • [MeSH-major] Gastrointestinal Stromal Tumors / pathology. Neurofibromatosis 1 / complications


35. Kuo YH, Roos D, Brophy BP: Linear accelerator radiosurgery for treatment of vestibular schwannomas in neurofibromatosis 2. J Clin Neurosci; 2008 Jul;15(7):744-8
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Linear accelerator radiosurgery for treatment of vestibular schwannomas in neurofibromatosis 2.
  • Management of vestibular schwannomas in patients with neurofibromatosis 2 (NF2) balances growth control against preservation of hearing with the primary aim of maintaining patient quality of life.
  • Previous studies on the efficacy of stereotactic radiosurgery for vestibular schwannomas in NF2 have reported results from delivery by Gamma Knife systems.
  • Modelling studies suggest that lesional conformality is superior with Gamma Knife, but clinical studies on sporadic vestibular schwannomas show equivalent results between the two systems.
  • Our experience with LINAC radiosurgery in NF2 reported here shows good long-term growth control in four patients with vestibular schwannomas.
  • [MeSH-major] Neurofibromatosis 2 / surgery. Neuroma, Acoustic / surgery. Radiosurgery / statistics & numerical data
  • [MeSH-minor] Adult. Brain Stem / pathology. Brain Stem / physiopathology. Brain Stem / surgery. Deafness / etiology. Deafness / physiopathology. Female. Humans. Magnetic Resonance Imaging. Male. Postoperative Complications / etiology. Postoperative Complications / physiopathology. Retrospective Studies. Treatment Outcome. Vestibular Nerve / pathology. Vestibular Nerve / physiopathology. Vestibular Nerve / radiation effects

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • MedlinePlus Health Information. consumer health - Acoustic Neuroma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18403208.001).
  • [ISSN] 0967-5868
  • [Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • [ISO-abbreviation] J Clin Neurosci
  • [Language] eng
  • [Publication-type] Case Reports; Comparative Study; Journal Article
  • [Publication-country] Scotland
  •  go-up   go-down


36. Buccoliero AM, Castiglione F, R Degl'Innocenti D, Gheri CF, Garbini F, Taddei A, Ammannati F, Mennonna P, Taddei GL: NF2 gene expression in sporadic meningiomas: relation to grades or histotypes real time-pCR study. Neuropathology; 2007 Feb;27(1):36-42
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] NF2 gene expression in sporadic meningiomas: relation to grades or histotypes real time-pCR study.
  • One of the most common regions involved in the meningiomas tumorigenesis is chromosome 22q where the NF2 gene resides.
  • The deficiency or loss of the NF2 gene product, merlin/schwannomin, plays a role in tumor development and metastatization.
  • Several studies have indicated NF2 gene inactivation as an early tumorigenic event unrelated to the histological grade or clinical behavior.
  • On the contrary, the NF2 gene alteration rate differs between the different histotypes.
  • A pathogenesis independent from the NF2 gene has been suggested in meningothelial meningiomas.
  • In the present work, we studied the NF2 gene expression through real time-PCR (RT-PCR) in 30 meningiomas.
  • The average of the NF2 gene expression of all meningiomas was considered as reference value.
  • The average of expression of WHO grade I and II meningiomas was higher than the average of all meningiomas, whereas that of WHO grade III meningiomas was lower.
  • When we compared the NF2 gene expression in the different meningioma grades we did not note a significant difference (P = 0.698) despite the tendency to decrease from grade I to grade III.
  • The difference in NF2 gene expression between meningothelial and non-meningothelial meningiomas was statistically significant (P = 0.013).
  • Our data supports the finding that alterations in NF2 gene alteration are histotype related but not grade related.
  • [MeSH-major] Genes, Neurofibromatosis 2. Meningeal Neoplasms / genetics. Meningeal Neoplasms / pathology. Meningioma / genetics

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17319281.001).
  • [ISSN] 0919-6544
  • [Journal-full-title] Neuropathology : official journal of the Japanese Society of Neuropathology
  • [ISO-abbreviation] Neuropathology
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Australia
  •  go-up   go-down


37. Brekke HR, Ribeiro FR, Kolberg M, Agesen TH, Lind GE, Eknaes M, Hall KS, Bjerkehagen B, van den Berg E, Teixeira MR, Mandahl N, Smeland S, Mertens F, Skotheim RI, Lothe RA: Genomic changes in chromosomes 10, 16, and X in malignant peripheral nerve sheath tumors identify a high-risk patient group. J Clin Oncol; 2010 Mar 20;28(9):1573-82
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • PATIENTS AND METHODS: Samples from 48 MPNSTs and 10 neurofibromas were collected from 51 patients with (n = 31) or without (n = 20) neurofibromatosis type 1 (NF1).
  • Additionally, gains at 16p or losses from 10q or Xq identified a high-risk group with only 11% 10-year disease-specific survival (P = .00005).
  • Conversely, within the total patient cohort with 34% 10-year disease-specific survival, a low-risk group was identified: without changes at chromosomes 10q, 16p, or Xq in their MPNSTs, the patients had 74% 10-year survival.
  • [MeSH-minor] Adolescent. Adult. Aged. Female. Gene Expression. Genome. Humans. Male. Middle Aged. Neurofibromatosis 1 / genetics. Prognosis. Risk Factors. Survival Analysis. Young Adult

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20159821.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  •  go-up   go-down


38. Bongiorno MR, Doukaki S, Aricò M: Neurofibromatosis of the nipple-areolar area: a case series. J Med Case Rep; 2010;4:22
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis of the nipple-areolar area: a case series.
  • INTRODUCTION: Neurofibromatosis type 1 is an autosomal dominant disorder that occurs across all ethnic groups and affects approximately one in 4000 individuals.
  • One of the most noticeable characteristics of the disease is the development of neurofibromas.
  • CASE PRESENTATION: A total of 258 patients (131 women, 127 men) with neurofibromatosis type 1 were evaluated between 1994 and 2004 in our hospital's dermatology department.
  • That neurofibromatosis is more prevalent in women (7 women and 2 men) suggests that being female could be a susceptibility factor for the development of neurofibromas of the nipple-areolar complexes.
  • There are few reports in the literature describing breast carcinomas in association with von Recklinghausen disease.
  • The finding that both the neurofibromatosis type 1 gene and a breast cancer predisposition gene are located in close proximity on chromosome 17q makes the association of these two conditions intriguing.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Arch Neurol. 1988 May;45(5):575-8 [3128965.001]
  • [Cites] Ann Plast Surg. 1981 Oct;7(4):302-7 [6797340.001]
  • [Cites] Am J Med Genet. 1997 May 16;70(2):138-43 [9128932.001]
  • [Cites] JAMA. 1997 Jul 2;278(1):51-7 [9207339.001]
  • [Cites] Clin Imaging. 2004 Nov-Dec;28(6):415-7 [15531141.001]
  • [Cites] Arch Dermatol. 2001 Nov;137(11):1421-5 [11708944.001]
  • [Cites] Gynecol Oncol. 2002 Sep;86(3):375-8 [12217765.001]
  • [Cites] Pathol Oncol Res. 2003;9(3):201-5 [14530818.001]
  • [Cites] Breast J. 2004 Jan-Feb;10(1):45-7 [14717759.001]
  • [Cites] Gynakol Geburtshilfliche Rundsch. 2000;40(1):47-9 [10867496.001]
  • (PMID = 20205809.001).
  • [ISSN] 1752-1947
  • [Journal-full-title] Journal of medical case reports
  • [ISO-abbreviation] J Med Case Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC2823760
  •  go-up   go-down


39. Rastogi R: Gastric outlet obstruction due to neurofibromatosis: an unusual case. Saudi J Gastroenterol; 2009 Jan;15(1):59-61
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gastric outlet obstruction due to neurofibromatosis: an unusual case.
  • Neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, is an autosomal dominant condition with an approximate incidence of one in 3000 births.
  • NF-1 is known to involve multiple systems in the body.
  • The author reports a rare case of diffuse submucosal neurofibromatosis resulting in gastric outlet obstruction.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Chir Ital. 2000 Jan-Feb;52(1):79-81 [10832530.001]
  • [Cites] Am Surg. 2005 Feb;71(2):100-5 [16022006.001]
  • [Cites] Radiographics. 2005 Mar-Apr;25(2):455-80 [15798063.001]
  • [Cites] Pediatr Radiol. 2005 Mar;35(3):317-22 [15517232.001]
  • [Cites] Curr Probl Surg. 1977 Feb;14(2):1-81 [405178.001]
  • [Cites] Surg Today. 1995;25(5):436-9 [7640473.001]
  • [Cites] Histopathology. 1991 Jul;19(1):1-11 [1916682.001]
  • [Cites] Surgery. 1988 Jun;103(6):701-3 [3131906.001]
  • [Cites] J Clin Gastroenterol. 1984 Dec;6(6):529-34 [6439777.001]
  • [Cites] Pediatr Radiol. 1997 Mar;27(3):255-6 [9126585.001]
  • (PMID = 19568560.001).
  • [ISSN] 1319-3767
  • [Journal-full-title] Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
  • [ISO-abbreviation] Saudi J Gastroenterol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Saudi Arabia
  • [Other-IDs] NLM/ PMC2702940
  • [Keywords] NOTNLM ; Gastric outlet obstruction / neurofibroma / von Recklinghausen
  •  go-up   go-down


40. Colletti L: Beneficial auditory and cognitive effects of auditory brainstem implantation in children. Acta Otolaryngol; 2007 Sep;127(9):943-6
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We demonstrated that the ABI with surface electrodes may provide sufficient stimulation of the central auditory system in adults for open set speech recognition.
  • Two children had NF2 tumours.
  • Eighteen children had bilateral cochlear nerve aplasia.
  • One child had bilateral incomplete cochlear partition (type II); one child, who had previously been fitted unsuccessfully elsewhere with a CI, had auditory neuropathy; one child showed total cochlear ossification bilaterally due to meningitis; and one child had profound hearing loss with cochlear fractures after a head injury.
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Child, Preschool. Cochlear Nerve / abnormalities. Ear Diseases / complications. Ear, External / abnormalities. Ear, Middle / abnormalities. Facial Nerve / abnormalities. Female. Hearing Tests. Humans. Infant. Male. Middle Aged. Neurofibromatosis 2 / complications. Neurofibromatosis 2 / surgery. Speech Discrimination Tests. Treatment Outcome

  • MedlinePlus Health Information. consumer health - Hearing Disorders and Deafness.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17712673.001).
  • [ISSN] 0001-6489
  • [Journal-full-title] Acta oto-laryngologica
  • [ISO-abbreviation] Acta Otolaryngol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Norway
  •  go-up   go-down


41. Chang LS, Welling DB: Molecular biology of vestibular schwannomas. Methods Mol Biol; 2009;493:163-77
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Molecular biology of vestibular schwannomas.
  • Recent advances in molecular biology have led to a better understanding of the etiology of vestibular schwannomas.
  • The underlying purpose of vestibular schwannoma research is the development of new treatment options; however, such options have not yet been established.
  • A fundamental understanding of the underlying molecular events leading to tumor formation began when mutations in the neurofibromatosis type 2 (NF2) tumor suppressor gene were identified in vestibular schwannomas.
  • The clinical characteristics of vestibular schwannomas and neurofibromatosis type 2 (NF2) syndromes have both been related to alterations in the NF2 gene.
  • Genetic screening for NF2 is now available.
  • When utilized with clinical screening, such as magnetic resonance imaging (MRI), conventional audiometry, and auditory brainstem response (ABR), the early detection of NF2 can be made, which consequently makes a significant difference in the ability to successfully treat vestibular schwannomas.
  • Additionally, the signaling pathways affected by merlin, the product of the NF2 gene, are becoming better understood.
  • Nf2-transgenic and knockout mice as well as vestibular schwannoma xenograft models are now ready for novel therapeutic testing.
  • [MeSH-major] Mutation. Neurofibromin 2 / genetics. Neuroma, Acoustic / genetics
  • [MeSH-minor] Animals. DNA Mutational Analysis. Genetic Predisposition to Disease. Humans. Magnetic Resonance Imaging. Mice. Mice, Knockout. Mice, SCID. Mice, Transgenic. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology

  • MedlinePlus Health Information. consumer health - Acoustic Neuroma.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18839347.001).
  • [ISSN] 1064-3745
  • [Journal-full-title] Methods in molecular biology (Clifton, N.J.)
  • [ISO-abbreviation] Methods Mol. Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2
  •  go-up   go-down


42. Slomiany MG, Dai L, Bomar PA, Knackstedt TJ, Kranc DA, Tolliver L, Maria BL, Toole BP: Abrogating drug resistance in malignant peripheral nerve sheath tumors by disrupting hyaluronan-CD44 interactions with small hyaluronan oligosaccharides. Cancer Res; 2009 Jun 15;69(12):4992-8
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Malignant peripheral nerve sheath tumors (MPNST) develop in approximately 10% of neurofibromatosis type-1 patients and are a major contributing factor to neurofibromatosis-1 patient mortality and morbidity.

  • COS Scholar Universe. author profiles.
  • Hazardous Substances Data Bank. DOXORUBICIN .
  • Hazardous Substances Data Bank. HYALURONIC ACID .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Biol Chem. 2001 Dec 28;276(52):48679-92 [11606575.001]
  • [Cites] J Biol Chem. 2000 Sep 1;275(35):26967-75 [10871609.001]
  • [Cites] Appl Immunohistochem Mol Morphol. 2002 Mar;10(1):34-9 [11893033.001]
  • [Cites] Nat Rev Cancer. 2002 Jan;2(1):48-58 [11902585.001]
  • [Cites] J Clin Neurosci. 2002 May;9(3):282-8 [12093135.001]
  • [Cites] J Biol Chem. 2002 Oct 11;277(41):38013-20 [12145277.001]
  • [Cites] J Child Neurol. 2002 Aug;17(8):548-54; discussion 571-2, 646-51 [12403552.001]
  • [Cites] Glia. 2003 Jun;42(4):350-8 [12730955.001]
  • [Cites] Hum Genet. 2003 Jul;113(2):178-87 [12728312.001]
  • [Cites] J Biol Chem. 2003 Jul 11;278(28):25285-8 [12738783.001]
  • [Cites] Glia. 2004 Feb;45(3):297-306 [14730703.001]
  • [Cites] J Biol Chem. 2004 Jun 25;279(26):26991-7007 [15090545.001]
  • [Cites] Nat Rev Cancer. 2004 Jul;4(7):528-39 [15229478.001]
  • [Cites] Biochem Pharmacol. 2004 Oct 1;68(7):1401-10 [15345330.001]
  • [Cites] Cytometry A. 2004 Oct;61(2):105-16 [15382145.001]
  • [Cites] J Biol Chem. 1983 Jul 10;258(13):8086-91 [6190806.001]
  • [Cites] J Biol Chem. 1993 Oct 15;268(29):21493-6 [8104940.001]
  • [Cites] J Neurooncol. 1995 Dec;26(3):171-84 [8750183.001]
  • [Cites] Int J Cancer. 1998 Jul 29;77(3):396-401 [9663602.001]
  • [Cites] J Biol Chem. 2005 Mar 11;280(10):8875-83 [15632176.001]
  • [Cites] J Biol Chem. 2005 May 27;280(21):20310-5 [15784621.001]
  • [Cites] Cancer Res. 2005 Aug 1;65(15):6660-7 [16061646.001]
  • [Cites] Nat Rev Cancer. 2005 Jul;5(7):557-64 [16069817.001]
  • [Cites] Arch Otolaryngol Head Neck Surg. 2006 Jul;132(7):771-8 [16847188.001]
  • [Cites] Blood Rev. 2006 Nov;20(6):333-42 [16920238.001]
  • [Cites] J Biol Chem. 2006 Nov 17;281(46):34936-41 [16959784.001]
  • [Cites] Arch Otolaryngol Head Neck Surg. 2007 Mar;133(3):281-8 [17372087.001]
  • [Cites] Cancer Res. 2007 Apr 1;67(7):2908-11 [17409392.001]
  • [Cites] Biochem J. 2007 Jun 1;404(2):327-36 [17324121.001]
  • [Cites] Cancer Lett. 2007 Jul 18;252(2):225-34 [17276588.001]
  • [Cites] J Biol Chem. 2007 Jul 20;282(29):20999-1004 [17540771.001]
  • [Cites] J Natl Cancer Inst. 2007 Oct 3;99(19):1441-54 [17895480.001]
  • [Cites] J Biol Chem. 2007 Dec 21;282(51):36777-81 [17981795.001]
  • [Cites] Int J Cancer. 2008 Mar 1;122(5):1012-8 [17985348.001]
  • [Cites] J Surg Oncol. 2008 Mar 15;97(4):340-9 [18286466.001]
  • [Cites] J Invest Dermatol. 2008 Apr;128(4):957-71 [17943188.001]
  • [Cites] Clin Cancer Res. 2008 Mar 15;14(6):1804-13 [18347183.001]
  • [Cites] J Biol Chem. 2008 May 23;283(21):14335-44 [18326857.001]
  • [Cites] Drug Resist Updat. 2008 Jun;11(3):110-21 [18490190.001]
  • [Cites] Pediatrics. 2009 Jan;123(1):124-33 [19117870.001]
  • [Cites] Cancer Res. 2009 Feb 15;69(4):1293-301 [19176383.001]
  • [Cites] Eur J Cancer. 2002 Feb;38(3):418-26 [11818209.001]
  • (PMID = 19470767.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] eng
  • [Grant] United States / NCRR NIH HHS / RR / C06 RR015455; United States / NCI NIH HHS / CA / R01 CA073839; United States / NCI NIH HHS / CA / R01 CA073839; United States / NCI NIH HHS / CA / R01 CA082867; United States / NCI NIH HHS / CA / R01 CA082867
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, CD44; 0 / Oligosaccharides; 80168379AG / Doxorubicin; 9004-61-9 / Hyaluronic Acid
  • [Other-IDs] NLM/ NIHMS463086; NLM/ PMC3655760
  •  go-up   go-down


43. Wimmer K: [Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome]. Wien Med Wochenschr; 2005 Jun;155(11-12):273-80
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].
  • [Transliterated title] Neurofibromatose: die häufigste Tumor-disponierende genetische Erkrankung.
  • With an incidence of one in 3000 to 4000 individuals, neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases and very likely the most frequent disorder with increased cancer risk.
  • Approximately fifty percent of all patients are familial cases and the remaining half consists of sporadic cases with no affected parent.
  • However, the disorder should not be underestimated as a "mere cosmetic problem", since NF1 patients are at increased risk to also develop malignant tumours, such as malignant peripheral nerve sheath tumours (MPNST), juvenile myelomonocytic leukaemia (JMML), optic glioma and pheochomocytoma.
  • Renovascular disease represents an additional risk factor for NF1 patients.
  • During the last 15 years, since the cloning of the gene, enormous progress has been made towards a better understanding of the natural history of the disorder.
  • However, it cannot be said if and when a cure of the disorder will be possible.
  • Owing to the technical improvements of the approaches applied to identify NF1-mutations molecular-genetic testing with high mutation detection rates may help nowadays in patients in which the clinical diagnosis may not readily be established, such as in young children or atypical cases.
  • A greater awareness of the complications and the different expression forms of NF1 and NF2 on the part of all types of physicians will further help to offer all patients adequate and timely counselling and treatment.
  • The establishment of multi-disciplinary counselling and treatment centres for neurofibromatosis could be an important step towards a better management of NF1 and NF2 patients.
  • [MeSH-major] Genes, Dominant / genetics. Neoplastic Syndromes, Hereditary / genetics. Neurofibromatosis 1 / genetics
  • [MeSH-minor] Adolescent. Adult. Child. Chromosome Aberrations. DNA Mutational Analysis. Disease Susceptibility. Genetic Counseling. Genetic Predisposition to Disease / genetics. Genetic Testing. Genotype. Heterozygote Detection. Humans. Neurofibromin 1 / genetics. Neurofibromin 2 / genetics. Phenotype. Risk

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - TUMOR PREDISPOSITION SYNDROME.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16035388.001).
  • [ISSN] 0043-5341
  • [Journal-full-title] Wiener medizinische Wochenschrift (1946)
  • [ISO-abbreviation] Wien Med Wochenschr
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] Austria
  • [Chemical-registry-number] 0 / Neurofibromin 1; 0 / Neurofibromin 2
  •  go-up   go-down


44. Kettner M, Schmidt P, Padosch SA: Vascular rupture-a rare lethal complication of neurofibromatosis v. Recklinghausen. Forensic Sci Med Pathol; 2007 Sep;3(3):206-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Vascular rupture-a rare lethal complication of neurofibromatosis v. Recklinghausen.
  • Neurofibromatosis type 1 (NF-1), a phacomatosis with an incidence of 1:3,000-4,000, is characterized by multiple benign nerve tumors, skin café-au-lait spots and a variety of other dysplastic abnormalities, e.g., of blood vessels.
  • On rare occasions NF-1 is associated with arterial dysplasia (vascular neurofibrosis), which is poorly defined and can result, e.g., in stenosis, rupture, arterio-venous fistula, or the formation of aneurysms.
  • Although a rare feature of neurofibromatosis, haemorrhage, e.g., after minimal trauma, is a potentially lethal complication of this disease.
  • We report the case of a 40-year-old woman with a history of NF-1 who collapsed gasping for air and died subsequently.
  • This fatality demonstrates that, in rare cases of NF-1 patients, the possibility of internal haemorrhage due to vessel rupture being the cause of death should be taken into consideration in medicolegal investigations even as a spontaneous event in the absence of an adequate blunt trauma.

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Neurofibromatosis. 1988;1(3):172-8 [3152465.001]
  • [Cites] Eur J Cardiothorac Surg. 2003 Jun;23 (6):1062-4 [12829093.001]
  • [Cites] Pathologe. 1997 Nov;18(6):480-3 [9451739.001]
  • [Cites] Hum Pathol. 1996 Sep;27(9):982-5 [8816897.001]
  • [Cites] J Laryngol Otol. 2004 Jun;118(6):471-3 [15285870.001]
  • [Cites] Neurology. 2005 Feb 8;64(3):553-5 [15699396.001]
  • [Cites] Angiology. 1974 Sep;25(8):510-9 [4212461.001]
  • [Cites] Am J Clin Pathol. 1974 Oct;62(4):481-7 [4212953.001]
  • [Cites] Curr Opin Neurol. 2004 Apr;17(2):101-5 [15021234.001]
  • [Cites] J Thorac Cardiovasc Surg. 1975 Jun;69(6):919-21 [805884.001]
  • [Cites] Clin Genet. 2000 Nov;58(5):341-4 [11140831.001]
  • [Cites] Cell. 1990 Nov 16;63(4):843-9 [2121370.001]
  • [Cites] Am J Med Genet. 1999 Mar 26;89(1):14-22 [10469432.001]
  • [Cites] J Med Genet. 2000 Dec;37(12):933-8 [11106357.001]
  • [Cites] Am J Med Genet. 1996 Jul 26;67(4):421-3 [8837715.001]
  • [Cites] J Med Genet. 1999 Mar;36(3):197-203 [10204844.001]
  • [Cites] Ann Thorac Surg. 2002 Mar;73(3):958-60 [11899210.001]
  • [Cites] Neurofibromatosis. 1988;1(1):5-16 [3273410.001]
  • (PMID = 25869165.001).
  • [ISSN] 1547-769X
  • [Journal-full-title] Forensic science, medicine, and pathology
  • [ISO-abbreviation] Forensic Sci Med Pathol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  •  go-up   go-down


45. Sabol Z, Kipke-Sabol L, Miklić P, Hajnsek-Propadalo S, Sabol F: [Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene]. Lijec Vjesn; 2006 Sep-Oct;128(9-10):309-16
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene].
  • [Transliterated title] Neurofibromatoza tip 2 (centralna neurofibromatoza ili bilateralni akusticki neuromi, vestibularni svanomi): od fenotipa do gena.
  • Neurofibromatosis type 2 (NF2) is an autosomal dominant disease that predisposes to bilateral vestibular schwannomas (neurinomas), other central and peripheral nervous system tumours (multiple meningeomas and neurofibromas) and ocular abnormalities (cataract).
  • The NF2 tumour suppresor gene is localised on chromosome 22q12 and encodes protein called schwannomin or merlin which is related to a family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins).
  • The majority of observed germline NF2 mutations are point mutations which result in schwannomin with an altered or absent C-terminal domain.
  • NF2 has a variable clinical presentation, with two basic types: severe type having early onset and progressive growth of tumors and the milder type having later onset and less aggressive course.
  • The genotype-phenotype correlations indicate a greater variability of clinical disease expression.
  • In this paper we discuss the epidemiology, genetic and clinical characteristics, diagnostic criteria, investigations, screening for risk persons and recommendations for care and therapy of patients with NF2.
  • [MeSH-major] Neurofibromatosis 2 / genetics. Neuroma, Acoustic / genetics


46. Ogasawara N, Sasaki M, Ishiguro H, Itoh Y, Nojiri S, Kubota E, Wada T, Kataoka H, Kuwabara Y, Joh T: Gastric schwannoma with adjacent external progression harbored aberrant NF2 gene. Dig Endosc; 2009 Jul;21(3):192-5
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gastric schwannoma with adjacent external progression harbored aberrant NF2 gene.
  • We describe a schwannoma of gastric origin with adjacent external progression.
  • Histology and immunohistochemistry revealed the typical appearance of a gastric schwannoma.
  • Genetic evaluation revealed that the tumor harbored a point mutation in exon 6 of the tumor suppressor neurofibromatosis 2 (NF2) gene, which resulted in an amino acid substitution of NF2 protein, and no mutation in exon 4b of the NF1 gene.
  • In conclusion, we identified a rare mutation of the NF2 gene in gastric schwannoma.
  • A diagnosis can only be definitive when based on histological and immunohistochemical findings.
  • [MeSH-major] Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Stomach Neoplasms / genetics
  • [MeSH-minor] Disease Progression. Female. Humans. Middle Aged

  • Genetic Alliance. consumer health - Schwannoma.
  • MedlinePlus Health Information. consumer health - Stomach Cancer.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19691769.001).
  • [ISSN] 1443-1661
  • [Journal-full-title] Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
  • [ISO-abbreviation] Dig Endosc
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
  •  go-up   go-down


47. Ton J, Stein-Wexler R, Yen P, Gupta M: Rib head protrusion into the central canal in type 1 neurofibromatosis. Pediatr Radiol; 2010 Dec;40(12):1902-9
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Rib head protrusion into the central canal in type 1 neurofibromatosis.
  • BACKGROUND: Intraspinal rib head dislocation is an important but under-recognized consequence of dystrophic scoliosis in patients with neurofibromatosis 1 (NF1).
  • It is essential that radiologists become familiar with this entity, as subtle findings have significant implications for surgical management.
  • [MeSH-major] Dislocations / diagnosis. Neurofibromatosis 1 / complications. Neurofibromatosis 1 / diagnosis. Ribs / pathology. Ribs / radiography. Spinal Cord Injuries / diagnosis. Spinal Cord Injuries / etiology


48. Ostergaard JR, Sunde L, Okkels H: Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. Am J Med Genet A; 2005 Dec 1;139A(2):96-105; discussion 96
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
  • We report on a nonconsanguineous family in which two siblings with cutaneous manifestations leading to a diagnosis of neurofibromatosis type 1 (NF1) developed CNS tumors at an early age.
  • In addition, one of them developed a T-cell lymphoma.
  • Most recently, about a dozen other cases of inherited bi-allelic deficiency of mismatch repair (MMR) genes associated with early onset CNS tumors, hematologic malignancy, gastrointestinal neoplasia, café-au-lait spots, and other NF1 features have been reported.
  • [MeSH-major] DNA-Binding Proteins / genetics. Heterozygote. Mutation. Neoplasms / genetics. Neurofibromatosis 1 / genetics. Siblings


49. Serranito-García R, Gelabert M, García-Allut A: [Aneurysm of anterior communicating artery associated with type 1 neurofibromatosis]. Neurologia; 2007 Oct;22(8):547-50
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Aneurysm of anterior communicating artery associated with type 1 neurofibromatosis].
  • [Transliterated title] Aneurisma de arteria comunicante anterior asociado a neurofibromatosis tipo 1.
  • INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant, hereditary, neurocutaneous syndrome that may primarily or secondarily, affect different organs or systems of the body including the cardiovascular system.
  • The most common vascular abnormality in patients with NF-1 is renal artery stenosis.
  • CASE REPORT: We report a case of a 35 year-old male with NF-1 who presented with sudden headache and neck stiffness.
  • CONCLUSION: Cerebrovascular abnormalities including intracranial aneurysms are found in 2.5 % of patients with neurofibromatosis.
  • [MeSH-major] Aneurysm, Ruptured / etiology. Intracranial Aneurysm / etiology. Neurofibromatosis 1 / complications


50. Utermark T, Kaempchen K, Antoniadis G, Hanemann CO: Reduced apoptosis rates in human schwannomas. Brain Pathol; 2005 Jan;15(1):17-22
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Schwannomas, tumors originating from Schwann cells, represent a frequent neurological tumor and can occur both in a genetic disorder called neurofibromatosis type 2 (NF2) and sporadically.
  • In both cases the genetic background is identical as all schwannomas are caused by biallelic mutations in the tumor suppressor gene NF2 coding for merlin.
  • Mutations in this gene have also been found to be responsible for 50% to 60% of spontaneous and 100% of the NF2 associated meningiomas.
  • The NF2 gene product, merlin, links transmembrane proteins to the cytoskeleton and is involved in intracellular signaling processes.
  • It has previously been shown that reexpression of wild-type merlin in primary human schwannoma cells leads to an increase in the number of apoptotic cells.
  • Here, we report in vivo and in vitro evidence that the basal apoptosis rate of primary human schwannoma cells is reduced in comparison to that of normal Schwann cells, supporting the idea that in this benign tumor type, apoptosis has a role in tumorigenesis.

  • The Lens. Cited by Patents in .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15779232.001).
  • [ISSN] 1015-6305
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
  •  go-up   go-down


51. Gesundheit B, Parkin P, Greenberg M, Baruchel S, Senger C, Kapelushnik J, Smith C, Klement GL: The role of angiogenesis in the transformation of plexiform neurofibroma into malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1. J Pediatr Hematol Oncol; 2010 Oct;32(7):548-53
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The role of angiogenesis in the transformation of plexiform neurofibroma into malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1.
  • PURPOSE: The role of angiogenesis in the transformation of peripheral neurofibroma (PNF) to malignant peripheral nerve sheath tumor (MPNST) in neurofibromatosis type 1 (NF1) remains elusive and forms the objective of this study.
  • In NF and PNF tumor cells were VEGF-, in contrast to VEGF+ tumor cells in MPNST.
  • [MeSH-major] Cell Transformation, Neoplastic. Neovascularization, Pathologic / physiopathology. Nerve Sheath Neoplasms / physiopathology. Neurofibroma, Plexiform / physiopathology. Neurofibromatosis 1 / physiopathology

  • Genetic Alliance. consumer health - Neurofibroma.
  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
  • Genetic Alliance. consumer health - Peripheral type neurofibromatosis.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20686424.001).
  • [ISSN] 1536-3678
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Actins; 0 / VEGFA protein, human; 0 / Vascular Endothelial Growth Factor A; 0 / von Willebrand Factor; EC 2.7.10.1 / FLT1 protein, human; EC 2.7.10.1 / Vascular Endothelial Growth Factor Receptor-1; EC 2.7.10.1 / Vascular Endothelial Growth Factor Receptor-2
  •  go-up   go-down


52. Boyd KP, Korf BR, Theos A: Neurofibromatosis type 1. J Am Acad Dermatol; 2009 Jul;61(1):1-14; quiz 15-6
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis type 1.
  • Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people.
  • In addition, mutational analysis has become available on a clinical basis and is useful for diagnostic confirmation in individuals who do not fulfill diagnostic criteria or when a prenatal diagnosis is desired.
  • There are several disorders that may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described.
  • This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed.
  • LEARNING OBJECTIVES: After completing this learning activity, participants should be able to discuss the indications and limitations of genetic testing in neurofibromatosis type 1, distinguish common and uncommon cutaneous findings, and recognize the dermatologist's role in diagnosis and management.

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Med Genet. 1995 Dec;32(12):985-6 [8825931.001]
  • [Cites] Arch Dermatol. 1996 Nov;132(11):1390-1 [8915325.001]
  • [Cites] JAMA. 1997 Jul 2;278(1):51-7 [9207339.001]
  • [Cites] N Engl J Med. 1981 Dec 31;305(27):1617-27 [6796886.001]
  • [Cites] Arch Dermatol. 1982 Aug;118(8):577-81 [6808930.001]
  • [Cites] Curr Probl Cancer. 1982 Aug;7(2):1-34 [6816509.001]
  • [Cites] Arch Dermatol. 1984 Mar;120(3):371-5 [6422862.001]
  • [Cites] Br J Dermatol. 1985 Apr;112(4):435-41 [3922394.001]
  • [Cites] Clin Genet. 1986 Jan;29(1):51-5 [3081287.001]
  • [Cites] J Am Acad Dermatol. 1986 Apr;14(4):628-32 [3007588.001]
  • [Cites] Eur J Dermatol. 1999 Apr-May;9(3):202-6 [10210785.001]
  • [Cites] J Am Acad Dermatol. 1999 Jun;40(6 Pt 1):877-90; quiz 891-2 [10365918.001]
  • [Cites] J Dermatol. 1999 Aug;26(8):535-7 [10487011.001]
  • [Cites] Pigment Cell Res. 2005 Feb;18(1):13-24 [15649148.001]
  • [Cites] J Child Neurol. 2004 Nov;19(11):853-8 [15658789.001]
  • [Cites] J Invest Dermatol. 2005 Sep;125(3):463-6 [16117786.001]
  • [Cites] Osteoporos Int. 2005 Sep;16(9):1161-6 [15988556.001]
  • [Cites] Curr Biol. 2005 Nov 8;15(21):1961-7 [16271875.001]
  • [Cites] J Clin Oncol. 2006 Jan 20;24(3):507-16 [16421428.001]
  • [Cites] Ann Neurol. 2006 Mar;59(3):490-8 [16453317.001]
  • [Cites] Arch Dermatol Res. 2006 Apr;297(10):439-49 [16479403.001]
  • [Cites] Ann Intern Med. 2006 Jun 6;144(11):842-9 [16754926.001]
  • [Cites] Am J Hum Genet. 2006 Jul;79(1):143-8 [16773574.001]
  • [Cites] Cell. 1990 Jul 13;62(1):187-92 [1694727.001]
  • [Cites] Semin Pediatr Neurol. 2006 Mar;13(1):8-20 [16818171.001]
  • [Cites] Am J Med Genet A. 2006 Sep 15;140(18):1893-8 [16906549.001]
  • [Cites] Am J Kidney Dis. 2006 Sep;48(3):e27-9 [16931204.001]
  • [Cites] Hum Mutat. 2006 Oct;27(10):1030-40 [16941471.001]
  • [Cites] J Med Genet. 2006 Oct;43(10):810-3 [16571643.001]
  • [Cites] Neurology. 2006 Nov 28;67(10):1860-2 [17035676.001]
  • [Cites] Am J Hum Genet. 2007 Jan;80(1):140-51 [17160901.001]
  • [Cites] J Dermatol. 2007 Apr;34(4):227-30 [17352718.001]
  • [Cites] Ann Neurol. 2007 Mar;61(3):189-98 [17387725.001]
  • [Cites] Pediatr Neurol. 2007 May;36(5):293-300 [17509460.001]
  • [Cites] Am J Hum Genet. 2007 Aug;81(2):243-51 [17668375.001]
  • [Cites] Nat Genet. 2007 Sep;39(9):1120-6 [17704776.001]
  • [Cites] Cancer Cell. 2008 Feb;13(2):105-16 [18242511.001]
  • [Cites] J Invest Dermatol. 2008 Apr;128(4):1050-3 [17914445.001]
  • [Cites] Bone. 2008 Apr;42(4):616-22 [18248783.001]
  • [Cites] JAMA. 2008 Jul 16;300(3):287-94 [18632543.001]
  • [Cites] Cell. 2008 Oct 31;135(3):437-48 [18984156.001]
  • [Cites] Am J Med Genet. 1997 Dec 12;73(2):197-204 [9409873.001]
  • [Cites] Pediatrics. 2000 Mar;105(3 Pt 1):608-14 [10699117.001]
  • [Cites] Tumori. 2000 Jan-Feb;86(1):70-4 [10778770.001]
  • [Cites] Hum Mutat. 2000;15(6):541-55 [10862084.001]
  • [Cites] Surv Ophthalmol. 2000 Nov-Dec;45(3):231-6 [11094247.001]
  • [Cites] J Am Acad Dermatol. 2000 Nov;43(5 Pt 2):958-61 [11044833.001]
  • [Cites] Am J Med Genet. 2000 Summer;97(2):119-27 [11180219.001]
  • [Cites] Neurology. 2001 Jun 12;56(11):1433-43 [11409413.001]
  • [Cites] Ann Dermatol Venereol. 2002 Feb;129(2):180-1 [11937955.001]
  • [Cites] J Med Genet. 2002 May;39(5):311-4 [12011145.001]
  • [Cites] J Med Genet. 2002 Aug;39(8):e45 [12161612.001]
  • [Cites] Am J Hum Genet. 2003 May;72(5):1288-92 [12660952.001]
  • [Cites] J Med Genet. 2003 Jun;40(6):e82 [12807981.001]
  • [Cites] Hum Mutat. 2004 Feb;23(2):111-6 [14722914.001]
  • [Cites] Melanoma Res. 2004 Apr;14(2):159-63 [15057048.001]
  • [Cites] Pediatr Dermatol. 2004 Mar-Apr;21(2):174-6 [15078363.001]
  • [Cites] Ann Ital Chir. 2004 Jan-Feb;75(1):91-5 [15283396.001]
  • [Cites] Arch Dis Child. 1966 Jun;41(217):316-9 [4957366.001]
  • [Cites] Arch Dermatol. 1969 Dec;100(6):750-5 [4188989.001]
  • [Cites] Arch Dermatol. 1970 Aug;102(2):172-6 [5430312.001]
  • [Cites] Birth Defects Orig Artic Ser. 1979;15(5B):271-81 [118780.001]
  • [Cites] South Med J. 1980 Apr;73(4):526-7 [6768137.001]
  • [Cites] Ann Dermatol Venereol. 1980 Apr;107(4):313-27 [6770739.001]
  • [Cites] J Am Acad Dermatol. 1980 Aug;3(2):157-66 [6774000.001]
  • [Cites] Ophthalmology. 1981 Apr;88(4):348-54 [6789269.001]
  • [Cites] Neuropediatrics. 1986 Nov;17(4):183-5 [3100979.001]
  • [Cites] Br J Ophthalmol. 1987 Mar;71(3):235-8 [3103673.001]
  • [Cites] Am J Hum Genet. 1988 Feb;42(2):284-9 [3124613.001]
  • [Cites] Brain. 1988 Dec;111 ( Pt 6):1355-81 [3145091.001]
  • [Cites] J Pediatr. 1989 May;114(5):788-92 [2497236.001]
  • [Cites] Am J Dis Child. 1989 Jun;143(6):717-9 [2499182.001]
  • [Cites] Arch Dermatol Res. 1989;281(7):510-3 [2514626.001]
  • [Cites] J Am Acad Dermatol. 1990 May;22(5 Pt 2):962-5 [2110580.001]
  • [Cites] Neurofibromatosis. 1989;2(4):244-5 [2517819.001]
  • [Cites] Schweiz Med Wochenschr. 1991 Mar 30;121(13):446-55 [1903213.001]
  • [Cites] Am J Med Genet. 1993 Mar 1;45(5):606-8 [8456833.001]
  • [Cites] Neurosurgery. 1993 Nov;33(5):948 [8264903.001]
  • [Cites] Br J Dermatol. 1994 Jan;130(1):106-10 [8305298.001]
  • [Cites] J Pediatr. 1994 Jul;125(1):63-6 [8021787.001]
  • [Cites] N Engl J Med. 1994 Nov 24;331(21):1403-7 [7969279.001]
  • [Cites] J Am Acad Dermatol. 1995 Feb;32(2 Pt 1):277-8 [7829715.001]
  • [Cites] Arch Dermatol. 1995 Aug;131(8):904-8 [7632061.001]
  • [Cites] Hum Mol Genet. 1995 Jun;4(6):975-81 [7655472.001]
  • [Cites] J Neurobiol. 1995 Aug;27(4):535-52 [7561832.001]
  • [Cites] Cutis. 1996 Feb;57(2):100-2 [8646852.001]
  • [Cites] Neurology. 1996 Jun;46(6):1660-8 [8649566.001]
  • (PMID = 19539839.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] ENG
  • [Grant] United States / NIAMS NIH HHS / AR / AR053458-03; United States / NIAMS NIH HHS / AR / T32 AR053458; United States / NIAMS NIH HHS / AR / T32 AR053458-03
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1
  • [Number-of-references] 95
  • [Other-IDs] NLM/ NIHMS111019; NLM/ PMC2716546
  •  go-up   go-down


53. Saito H, Yoshida T, Yamazaki H, Suzuki N: Conditional N-rasG12V expression promotes manifestations of neurofibromatosis in a mouse model. Oncogene; 2007 Jul 12;26(32):4714-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Conditional N-rasG12V expression promotes manifestations of neurofibromatosis in a mouse model.
  • Human clinical neurofibromatosis type 1 (NF1) and type 2 (NF2) result from mutations and inactivation of neurofibromin and merlin genes, respectively, which negatively regulate Ras pathways.
  • To evaluate the contribution of N-Ras activity to the development of NF, we generated a novel transgenic mouse expressing oncogenic N-ras specifically in central nerve cells, neural crest-derived cells and lens epithelial cells.
  • However, plexiform neurofibroma, schwannoma, astrocytoma and pheochromocytoma were not observed in the mice, suggesting a requirement for signal(s) other than the activated N-Ras pathway to induce these tumors.
  • Thus, the activated N-Ras signal may be a main pathway for the development of the disease phenotypes characteristic of NF.
  • [MeSH-major] Disease Models, Animal. Genes, ras. Mice / genetics. Neurofibromatosis 1 / genetics. Neurofibromatosis 2 / genetics
  • [MeSH-minor] Animals. Calcium-Calmodulin-Dependent Protein Kinase Type 2. Calcium-Calmodulin-Dependent Protein Kinases / genetics. Cataract / genetics. Cataract / pathology. Integrases / metabolism. Mice, Inbred Strains. Mice, Transgenic. Promoter Regions, Genetic

  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • SciCrunch. Marmoset Gene list: Data: Gene Annotation .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17237809.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] EC 2.7.11.17 / Calcium-Calmodulin-Dependent Protein Kinase Type 2; EC 2.7.11.17 / Calcium-Calmodulin-Dependent Protein Kinases; EC 2.7.7.- / Cre recombinase; EC 2.7.7.- / Integrases
  •  go-up   go-down


54. Willecke M, Hamaratoglu F, Kango-Singh M, Udan R, Chen CL, Tao C, Zhang X, Halder G: The fat cadherin acts through the hippo tumor-suppressor pathway to regulate tissue size. Curr Biol; 2006 Nov 7;16(21):2090-100
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Merlin, the Drosophila homolog of the human Neurofibromatosis type-2 (NF2) tumor-suppressor gene, and the related protein Expanded are the most upstream components of the Hippo pathway identified so far.
  • We found that the overgrowth phenotypes of fat mutants are similar to those of mutants in Hippo pathway components: fat mutant cells continued to proliferate after wild-type cells stopped proliferating, and fat mutant cells deregulated Hippo target genes such as cyclin E and diap1.

  • COS Scholar Universe. author profiles.
  • Gene Ontology. gene/protein/disease-specific - Gene Ontology annotations from this paper .
  • FlyBase. FlyBase .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16996265.001).
  • [ISSN] 0960-9822
  • [Journal-full-title] Current biology : CB
  • [ISO-abbreviation] Curr. Biol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA16672
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Cadherins; 0 / Cell Adhesion Molecules; 0 / Drosophila Proteins; 0 / Intracellular Signaling Peptides and Proteins; 0 / Membrane Proteins; 0 / Neurofibromin 2; 0 / Nuclear Proteins; 0 / Trans-Activators; 0 / Yorkie protein, Drosophila; 0 / expanded protein, Drosophila; 0 / fat protein, Drosophila; 0 / merlin, Drosophila; EC 2.7.- / Protein Kinases; EC 2.7.1.- / warts protein, Drosophila; EC 2.7.11.1 / Protein-Serine-Threonine Kinases; EC 2.7.11.1 / hpo protein, Drosophila
  •  go-up   go-down


55. Nakamura M, Roser F, Struck M, Vorkapic P, Samii M: Tuberculum sellae meningiomas: clinical outcome considering different surgical approaches. Neurosurgery; 2006 Nov;59(5):1019-28; discussion 1028-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Patients with associated neurofibromatosis Type 2 were excluded from the study.

  • MedlinePlus Health Information. consumer health - Vision Impairment and Blindness.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17143236.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


56. Chen PJ, Hsu JD, Han CP: Anti-cytokeratin CAM5.2 reagent (Becton Dickinson Biosciences) can detect CK 8, not CK8/18-Comment on "Sonographic findings in a patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor," J Clin Ultrasound 2010 Jan 20 [Epub ahead of print]. J Clin Ultrasound; 2010 Sep;38(7):384; author reply 385
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Anti-cytokeratin CAM5.2 reagent (Becton Dickinson Biosciences) can detect CK 8, not CK8/18-Comment on "Sonographic findings in a patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor," J Clin Ultrasound 2010 Jan 20 [Epub ahead of print].
  • [MeSH-major] Biomarkers / metabolism. Gastrointestinal Stromal Tumors / ultrasonography. Keratin-18 / immunology. Keratin-8 / immunology. Keratins / immunology. Neurofibromatosis 1 / ultrasonography


57. Piña-Oviedo S, Del Valle L, Baquera-Heredia J, Ortiz-Hidalgo C: Immunohistochemical characterization of Renaut bodies in superficial digital nerves: further evidence supporting their perineurial cell origin. J Peripher Nerv Syst; 2009 Mar;14(1):22-6
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • In addition, expression of hypoxia-inducible factor 1 alpha (which has been shown to increase Glut-1 transcription), neurofibromatosis 1 gene related product and NF-2, were also detected in these peripheral nerve structures.
  • [MeSH-minor] Adult. Claudin-1. Glucose Transporter Type 1 / metabolism. Humans. Hypoxia-Inducible Factor 1, alpha Subunit / metabolism. Male. Membrane Proteins / metabolism

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19335536.001).
  • [ISSN] 1529-8027
  • [Journal-full-title] Journal of the peripheral nervous system : JPNS
  • [ISO-abbreviation] J. Peripher. Nerv. Syst.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / CLDN1 protein, human; 0 / Claudin-1; 0 / Glucose Transporter Type 1; 0 / HIF1A protein, human; 0 / Hypoxia-Inducible Factor 1, alpha Subunit; 0 / Membrane Proteins
  •  go-up   go-down


58. Lau YK, Murray LB, Houshmandi SS, Xu Y, Gutmann DH, Yu Q: Merlin is a potent inhibitor of glioma growth. Cancer Res; 2008 Jul 15;68(14):5733-42
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Neurofibromatosis 2 (NF2) is an inherited cancer syndrome in which affected individuals develop nervous system tumors, including schwannomas, meningiomas, and ependymomas.
  • The NF2 protein merlin (or schwannomin) is a member of the Band 4.1 superfamily of proteins, which serve as linkers between transmembrane proteins and the actin cytoskeleton.
  • In addition to mutational inactivation of the NF2 gene in NF2-associated tumors, mutations and loss of merlin expression have also been reported in other types of cancers.

  • Genetic Alliance. consumer health - Glioma.
  • MedlinePlus Health Information. consumer health - Brain Tumors.
  • COS Scholar Universe. author profiles.
  • antibodies-online. View related products from antibodies-online.com (subscription/membership/fee required).
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Nat Cell Biol. 2006 Jan;8(1):27-36 [16341207.001]
  • [Cites] Int J Cancer. 2005 Dec 10;117(5):755-63 [15981204.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4463-8 [16537381.001]
  • [Cites] Curr Biol. 2006 Apr 4;16(7):702-9 [16581517.001]
  • [Cites] Oncogene. 2006 Apr 20;25(17):2452-67 [16314835.001]
  • [Cites] Cell. 2006 Jun 30;125(7):1253-67 [16814713.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Aug 15;103(33):12405-10 [16894141.001]
  • [Cites] Cancer Res. 2006 Sep 1;66(17):8511-9 [16951163.001]
  • [Cites] Nat Genet. 2006 Oct;38(10):1142-50 [16980976.001]
  • [Cites] Genes Dev. 2006 Oct 1;20(19):2687-700 [17015431.001]
  • [Cites] Neuropathol Appl Neurobiol. 2006 Dec;32(6):615-24 [17083476.001]
  • [Cites] Neurosci Res. 2006 Dec;56(4):450-8 [17049657.001]
  • [Cites] Neurology. 2006 Nov 28;67(10):1863-6 [17130425.001]
  • [Cites] Oncogene. 2007 Feb 8;26(6):836-50 [16953231.001]
  • [Cites] Mol Cell Biol. 2007 Mar;27(6):2103-19 [17210637.001]
  • [Cites] Dev Biol. 2007 Apr 1;304(1):102-15 [17258190.001]
  • [Cites] Brain Dev. 2007 Jun;29(5):273-80 [17071037.001]
  • [Cites] J Biol Chem. 2007 Jul 20;282(29):21206-12 [17513297.001]
  • [Cites] Nat Cell Biol. 2007 Oct;9(10):1199-207 [17891137.001]
  • [Cites] Cell Signal. 2008 May;20(5):795-802 [18160255.001]
  • [Cites] Development. 2000 Mar;127(6):1315-24 [10683183.001]
  • [Cites] Annu Rev Cell Dev Biol. 2000;16:113-43 [11031232.001]
  • [Cites] Genes Dev. 2001 Jun 1;15(11):1311-33 [11390353.001]
  • [Cites] Dev Cell. 2001 Jul;1(1):63-72 [11703924.001]
  • [Cites] Curr Opin Cell Biol. 2002 Feb;14(1):104-9 [11792551.001]
  • [Cites] Oncogene. 2002 Jan 31;21(6):878-89 [11840333.001]
  • [Cites] Cancer Genet Cytogenet. 2002 Apr 1;134(1):1-5 [11996787.001]
  • [Cites] J Cell Sci. 2003 Jul 1;116(Pt 13):2627-34 [12775774.001]
  • [Cites] Oncogene. 2003 Jul 10;22(28):4398-405 [12853976.001]
  • [Cites] Cell. 2003 Aug 22;114(4):445-56 [12941273.001]
  • [Cites] Mol Cell. 2003 Oct;12(4):841-9 [14580336.001]
  • [Cites] Nat Rev Cancer. 2003 Nov;3(11):877-83 [14668818.001]
  • [Cites] Vitam Horm. 2004;67:453-83 [15110190.001]
  • [Cites] EMBO J. 2004 Sep 15;23(18):3677-88 [15343267.001]
  • [Cites] Nat Rev Genet. 2004 Sep;5(9):691-701 [15372092.001]
  • [Cites] Cell. 1993 Mar 12;72(5):791-800 [8453669.001]
  • [Cites] Nature. 1993 Jun 10;363(6429):515-21 [8379998.001]
  • [Cites] Nat Genet. 1994 Feb;6(2):185-92 [8162073.001]
  • [Cites] Gene. 1995 Dec 29;167(1-2):303-6 [8566796.001]
  • [Cites] Neurology. 1997 Jul;49(1):267-70 [9222206.001]
  • [Cites] Oncogene. 1997 Nov 13;15(20):2505-9 [9395247.001]
  • [Cites] J Neurosurg. 1998 Jan;88(1):1-10 [9420066.001]
  • [Cites] Nat Genet. 1999 Feb;21(2):177-81 [9988268.001]
  • [Cites] Nat Genet. 1999 Feb;21(2):182-6 [9988269.001]
  • [Cites] Clin Cancer Res. 2005 Feb 15;11(4):1380-5 [15746036.001]
  • [Cites] Oncogene. 2005 Mar 17;24(12):2076-86 [15688006.001]
  • [Cites] Cell. 2005 Aug 12;122(3):421-34 [16096061.001]
  • [Cites] Cancer Res. 2005 Oct 1;65(19):8679-89 [16204036.001]
  • [Cites] Mol Cancer Ther. 2006 Mar;5(3):494-501 [16546963.001]
  • (PMID = 18632626.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / 1F32CA128335-01A1; United States / NCI NIH HHS / CA / CA135158-02; United States / NCI NIH HHS / CA / R01 CA135158-02; United States / NCI NIH HHS / CA / CA135158-01A1; United States / NCI NIH HHS / CA / F32 CA128335; United States / NCI NIH HHS / CA / R01 CA135158-01A1; United States / NCI NIH HHS / CA / R01 CA135158; United States / NCI NIH HHS / CA / R01 CA150355
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / Wnt Proteins
  • [Other-IDs] NLM/ NIHMS147652; NLM/ PMC2778036
  •  go-up   go-down


59. Maher ER: Genetics of phaeochromocytoma. Br Med Bull; 2006;79-80:141-51
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The identification of individuals with phaeochromocytoma susceptibility disorders (e.g. von Hippel-Lindau disease, succinate dehydrogenase subunit mutations, multiple endocrine neoplasia type 2 and neurofibromatosis type 1) is important because of the opportunity to reduce morbidity and mortality from phaeochromocytoma and other relevant tumours in affected individuals and their at-risk relatives.
  • Recent studies have also provided clues to the molecular pathogenesis of phaeochromocytoma development in familial cases and suggest that this differs from that seen in sporadic non-inherited cases.
  • [MeSH-major] Adrenal Gland Neoplasms / genetics. Genetic Predisposition to Disease / genetics. Germ-Line Mutation / genetics. Pheochromocytoma / genetics

  • MedlinePlus Health Information. consumer health - Adrenal Gland Cancer.
  • MedlinePlus Health Information. consumer health - Pheochromocytoma.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17339275.001).
  • [ISSN] 0007-1420
  • [Journal-full-title] British medical bulletin
  • [ISO-abbreviation] Br. Med. Bull.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Number-of-references] 68
  •  go-up   go-down


60. Cai LH, Wu H, Lü JR, Wang ZY: [Expression of S518 phosphorylated Merlin and its interaction with CD44 in vestibular schwannoma]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2008 Dec;43(12):910-4
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Expression of S518 phosphorylated Merlin and its interaction with CD44 in vestibular schwannoma].
  • OBJECTIVE: To investigate the impact of S518 phosphorylation in Merlin on the interaction with CD44 in vestibular schwannoma and the tumor growth.
  • METHODS: Thirty-five samples of vestibular schwannoma were identified by pathology.
  • RESULTS: In vestibular schwannoma, Merlin was phosphorylated at S518 and demonstrated perinuclear localization.
  • The S518 phosphorylation level was much lower in the normal control nerve tissues than that in vestibular schwannoma tissues.
  • The S518 phosphorylated Merlin bound CD44 was higher than wild-type Merlin bound CD44 in vestibular schwannoma tissues.
  • Different cellular biological results might be triggered through binding to wild type Merlin and S518 phosphorylated Merlin.
  • [MeSH-major] Antigens, CD44 / metabolism. Neurofibromin 2 / metabolism. Neuroma, Acoustic / metabolism
  • [MeSH-minor] Adult. Aged. Female. Genes, Neurofibromatosis 2. Humans. Male. Middle Aged. Neoplasm Staging. Phosphorylation

  • Genetic Alliance. consumer health - Schwannoma.
  • MedlinePlus Health Information. consumer health - Acoustic Neuroma.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19141242.001).
  • [ISSN] 1673-0860
  • [Journal-full-title] Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
  • [ISO-abbreviation] Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Antigens, CD44; 0 / Neurofibromin 2
  •  go-up   go-down


61. Tatagiba M, Gharabaghi A: Electrically evoked hearing perception by functional neurostimulation of the central auditory system. Acta Neurochir Suppl; 2005;93:93-5
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Electrically evoked hearing perception by functional neurostimulation of the central auditory system.
  • Perceptional benefits and potential risks of electrical stimulation of the central auditory system are constantly changing due to ongoing developments and technical modifications.
  • Patients with bilateral tumours as a result of neurofibromatosis type 2 with complete dysfunction of the eighth cranial nerves are the most frequent candidates for auditory brainstem implants.
  • Patient selection is based on disease course, clinical signs, audiological, radiological and psycho-social criteria.
  • Functional neurostimulation of the central auditory system by a brainstem implant is a safe and beneficial procedure, which may considerably improve the quality of life in patients suffering from deafness due to bilateral retrocochlear lesions.

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 15986735.001).
  • [ISSN] 0065-1419
  • [Journal-full-title] Acta neurochirurgica. Supplement
  • [ISO-abbreviation] Acta Neurochir. Suppl.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Austria
  • [Number-of-references] 17
  •  go-up   go-down


62. Holmstrom G: Horner's syndrome: an atypical presentation in a child with neurofibromatosis type 2. Eye (Lond); 2006 Dec;20(12):1472-4
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Horner's syndrome: an atypical presentation in a child with neurofibromatosis type 2.
  • [MeSH-major] Horner Syndrome / diagnosis. Neurofibromatosis 2 / complications. Spinal Neoplasms / complications


63. Gilboa Y, Josman N, Fattal-Valevski A, Toledano-Alhadef H, Rosenblum S: The handwriting performance of children with NF1. Res Dev Disabil; 2010 Jul-Aug;31(4):929-35
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The objective of this study was to analyze the process and product of handwriting among children with Neurofibromatosis Type 1 (NF1) in comparison to those of Typically Developing (TD) children.
  • [MeSH-major] Cognition Disorders / diagnosis. Handwriting. Neurofibromatosis 1 / diagnosis. Perceptual Disorders / diagnosis. Psychomotor Disorders / diagnosis
  • [MeSH-minor] Adolescent. Child. Diagnosis, Computer-Assisted. Executive Function. Female. Humans. Intelligence. Israel. Male. Neuropsychological Tests. Software. Writing

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 20392595.001).
  • [ISSN] 1873-3379
  • [Journal-full-title] Research in developmental disabilities
  • [ISO-abbreviation] Res Dev Disabil
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  •  go-up   go-down


64. Scoles DR, Qin Y, Nguyen V, Gutmann DH, Pulst SM: HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line. Biochem Biophys Res Commun; 2005 Sep 23;335(2):385-92
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line.
  • Previously, we identified HRS as a protein that interacts with the neurofibromatosis 2 tumor suppressor schwannomin.
  • In the present study, we established modified RT4 schwannoma cell lines that inducibly express HRS and constitutively express epidermal growth factor receptor (EGFR) fused to the green fluorescent protein.
  • This study is the first to show that HRS can reduce the abundance of total and active EGFR and may reflect cell type-specific HRS function.

  • COS Scholar Universe. author profiles.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 16083858.001).
  • [ISSN] 0006-291X
  • [Journal-full-title] Biochemical and biophysical research communications
  • [ISO-abbreviation] Biochem. Biophys. Res. Commun.
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / NS01428-01A1; United States / NINDS NIH HHS / NS / NS35848
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Endosomal Sorting Complexes Required for Transport; 0 / Neurofibromin 2; 0 / Phosphoproteins; 0 / hepatocyte growth factor-regulated tyrosine kinase substrate; 147336-22-9 / Green Fluorescent Proteins; EC 2.7.10.1 / Receptor, Epidermal Growth Factor
  •  go-up   go-down


65. Edouard T, Montagner A, Dance M, Conte F, Yart A, Parfait B, Tauber M, Salles JP, Raynal P: How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms? Cell Mol Life Sci; 2007 Jul;64(13):1585-90
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • While the mechanisms remain unclear, recent functional analysis of SHP-2, along with the identification of other genes involved in NS and in other related syndromes (neurofibromatosis-1, Costello and cardio-facio-cutaneous syndromes), strongly suggest that Ras/MAPK represents the major signaling pathway deregulated by SHP-2 mutants.
  • We discuss the idea that, with the exception of LS mutations that have been shown to exert a dominant negative effect, all disease-causing mutations involved in Ras/MAPK-mediated signaling, including SHP-2, might lead to enhanced MAPK activation.
  • [MeSH-minor] Animals. Humans. Protein Tyrosine Phosphatase, Non-Receptor Type 11. Syndrome

  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17453145.001).
  • [ISSN] 1420-682X
  • [Journal-full-title] Cellular and molecular life sciences : CMLS
  • [ISO-abbreviation] Cell. Mol. Life Sci.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Intracellular Signaling Peptides and Proteins; EC 3.1.3.48 / PTPN11 protein, human; EC 3.1.3.48 / Protein Tyrosine Phosphatase, Non-Receptor Type 11; EC 3.1.3.48 / Protein Tyrosine Phosphatases
  • [Number-of-references] 45
  •  go-up   go-down


66. Stieglitz LH, Wrede KH, Gharabaghi A, Gerganov VM, Samii A, Samii M, Luedemann WO: Factors affecting postoperative cerebrospinal fluid leaks after retrosigmoidal craniotomy for vestibular schwannomas. J Neurosurg; 2009 Oct;111(4):874-83
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Factors affecting postoperative cerebrospinal fluid leaks after retrosigmoidal craniotomy for vestibular schwannomas.
  • OBJECT: The aim of this study was to identify patients likely to develop CSF leaks after vestibular schwannoma surgery using a retrospective analysis for the identification of risk factors.
  • Twenty-six patients had bilateral tumors due to neurofibromatosis Type 2, and 4 patients had previously undergone radiosurgical treatment.
  • There were no CSF fistulas in the neurofibromatosis Type 2 group or in patients with preoperative radiosurgical treatment.
  • [MeSH-major] Craniotomy / adverse effects. Craniotomy / methods. Neuroma, Acoustic / surgery. Subdural Effusion / etiology

  • MedlinePlus Health Information. consumer health - Acoustic Neuroma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19326990.001).
  • [ISSN] 1933-0693
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 42
  •  go-up   go-down


67. Claus EB, Park PJ, Carroll R, Chan J, Black PM: Specific genes expressed in association with progesterone receptors in meningioma. Cancer Res; 2008 Jan 1;68(1):314-22
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Genes on the long arm of chromosome 22 and near the neurofibromatosis type 2 (NF2) gene (22q12) were most frequently noted to have expression variation, with significant up-regulation in PR+ versus PR- lesions, suggesting a higher rate of 22q loss in PR- lesions.
  • PR status is related to the expression of genes near the NF2 gene, mutations in which have been identified as the initial event in many meningiomas.

  • Genetic Alliance. consumer health - Meningioma.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Int J Biol Markers. 2002 Jan-Mar;17(1):42-8 [11936585.001]
  • [Cites] Proc Natl Acad Sci U S A. 2003 Aug 5;100(16):9440-5 [12883005.001]
  • [Cites] Am J Pathol. 2002 Aug;161(2):665-72 [12163391.001]
  • [Cites] J Neurosurg. 2003 Nov;99(5):848-53 [14609164.001]
  • [Cites] J Clin Pathol. 2004 Oct;57(10):1033-7 [15452155.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 1969 Aug;32(4):305-7 [4980021.001]
  • [Cites] J Neurosurg. 1979 Apr;50(4):499-502 [423006.001]
  • [Cites] J Neurosurg. 1987 Apr;66(4):584-7 [3559725.001]
  • [Cites] J Neurosurg. 1991 Jun;74(6):861-6 [2033444.001]
  • [Cites] Cancer. 1992 May 15;69(10):2541-7 [1568177.001]
  • [Cites] J Neurosurg. 1993 Mar;78(3):456-62 [8433149.001]
  • [Cites] J Neurooncol. 1993 Jan;15(1):75-7 [8455065.001]
  • [Cites] Cancer. 1993 Aug 1;72(3):639-48 [8334619.001]
  • [Cites] Acta Neurochir Suppl. 1996;65:50-3 [8738495.001]
  • [Cites] J Neurosurg. 1997 Jan;86(1):113-20 [8988089.001]
  • [Cites] Int J Cancer. 1997 Jul 29;72(3):389-93 [9247278.001]
  • [Cites] Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14719-24 [9405679.001]
  • [Cites] J Neurooncol. 1999 Apr;42(2):109-16 [10421067.001]
  • [Cites] Int J Cancer. 2005 Mar 20;114(2):249-56 [15540215.001]
  • [Cites] Int J Cancer. 2005 May 1;114(5):797-805 [15609304.001]
  • [Cites] Neurosurgery. 2005 Dec;57(6):1088-95; discussion 1088-95 [16331155.001]
  • [Cites] Int J Cancer. 2006 Sep 1;119(5):1152-7 [16570277.001]
  • [Cites] J Neuropathol Exp Neurol. 2006 May;65(5):445-54 [16772868.001]
  • [Cites] BMC Cancer. 2006;6:152 [16759391.001]
  • [Cites] Am J Epidemiol. 2006 Oct 1;164(7):629-36 [16835295.001]
  • [Cites] Cancer Invest. 2006 Dec;24(8):727-33 [17162554.001]
  • [Cites] J Neurosurg. 2006 Aug;105(2):163-73 [17219818.001]
  • [Cites] Diagn Mol Pathol. 2000 Mar;9(1):14-9 [10718208.001]
  • [Cites] Cancer. 2002 Mar 15;94(6):1626-35 [11920521.001]
  • [Cites] Neurosurgery. 2003 Apr;52(4):892-8; discussion 898-9 [12657186.001]
  • [Cites] Acta Neurol Belg. 2002 Jun;102(2):53-62 [12161900.001]
  • (PMID = 18172325.001).
  • [ISSN] 1538-7445
  • [Journal-full-title] Cancer research
  • [ISO-abbreviation] Cancer Res.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA109461; United States / NCI NIH HHS / CA / R01 CA109461; United States / NCI NIH HHS / CA / R01 CA109461-02; United States / NCI NIH HHS / CA / R01 CA109468; United States / NCI NIH HHS / CA / R01 CA109468; United States / NCI NIH HHS / CA / R01 CA109468-02; United States / NCI NIH HHS / CA / R01 CA109745; United States / NCI NIH HHS / CA / R01 CA151933
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Receptors, Estrogen; 0 / Receptors, Progesterone
  • [Other-IDs] NLM/ NIHMS341364; NLM/ PMC3256746
  •  go-up   go-down


68. Hasson DM, Khera SY, Meade TL, Dupont EL, Greenberg HM, Diaz NM, Romilly AP, Cox CE: Problems with the use of breast conservation therapy for breast cancer in a patient with neurofibromatosis type 1: a case report. Breast J; 2008 Mar-Apr;14(2):188-92
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Problems with the use of breast conservation therapy for breast cancer in a patient with neurofibromatosis type 1: a case report.
  • Patients with neurofibromatosis type I and breast cancer represent a subset of people who may be considered at high risk for secondary cancers after conventional whole breast radiation therapy and breast conservation surgery.
  • A case of a 49-year-old woman with neurofibromatosis type I is presented.
  • Her initial treatment plan of breast conserving therapy was thwarted when her sentinel node biopsy was positive for micrometastatic disease in 1/14 lymph nodes.
  • She elected to have a bilateral simple mastectomy.
  • This case addresses the rare dilemma of offering breast conservation therapy as a viable option for patients with neurofibromatosis type I.
  • [MeSH-major] Breast Neoplasms / complications. Breast Neoplasms / therapy. Carcinoma, Ductal, Breast / complications. Carcinoma, Ductal, Breast / therapy. Neoplasms, Second Primary. Neurofibromatosis 1 / complications
  • [MeSH-minor] Biopsy, Needle. Female. Genetic Predisposition to Disease. Humans. Mammography. Mastectomy. Mastectomy, Segmental. Middle Aged. Neoplasms, Radiation-Induced / etiology. Radiotherapy, Adjuvant / adverse effects. Sentinel Lymph Node Biopsy


69. Washington EN, Placket TP, Gagliano RA, Kavolius J, Person DA: Diffuse plexiform neurofibroma of the back: report of a case. Hawaii Med J; 2010 Aug;69(8):191-3
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Neurofibromatosis type 1 is an autosomal dominant disorder affecting the ras proto-oncogene.
  • A case of a Pacific Islander with a large plexiform type 1 neurofibroma is presented.
  • A review of the literature concerning the diagnosis and treatment of neurofibromatosis is included.
  • [MeSH-major] Neurofibroma, Plexiform / pathology. Neurofibromatosis 1 / surgery. Soft Tissue Neoplasms / pathology

  • Genetic Alliance. consumer health - Neurofibroma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] Hawaii Medical Journal Copyright 2010.
  • [Cites] Pediatrics. 2000 Mar;105(3 Pt 1):608-14 [10699117.001]
  • [Cites] J Am Acad Dermatol. 2009 Jul;61(1):1-14; quiz 15-6 [19539839.001]
  • [Cites] Pac Health Dialog. 2000 Sep;7(2):29-35 [11588916.001]
  • [Cites] Neurology. 2003 Jan 14;60(1):130-2 [12525736.001]
  • [Cites] Brain. 1988 Dec;111 ( Pt 6):1355-81 [3145091.001]
  • [Cites] Cell. 1992 Apr 17;69(2):265-73 [1568246.001]
  • [Cites] Am J Hum Genet. 1993 Aug;53(2):305-13 [8328449.001]
  • [Cites] J Pediatr. 1997 Nov;131(5):678-82 [9403645.001]
  • [Cites] Arch Neurol. 1998 Jun;55(6):778-80 [9626767.001]
  • [Cites] J Neurooncol. 2004 Aug-Sep;69(1-3):335-49 [15527099.001]
  • [Cites] Arch Dermatol. 2005 Jan;141(1):71-4 [15655144.001]
  • [Cites] Neurologist. 2006 Mar;12(2):86-93 [16534445.001]
  • [Cites] Neurology. 2006 Nov 28;67(10):1860-2 [17035676.001]
  • [Cites] Cancer. 2007 Apr 1;109(7):1406-12 [17330850.001]
  • [Cites] Pediatr Neurol. 2007 May;36(5):293-300 [17509460.001]
  • [Cites] J Neurosurg. 2007 May;106(5 Suppl):363-7 [17566202.001]
  • [Cites] Ulster Med J. 2008 Sep;77(3):160-3 [18956796.001]
  • [Cites] Oncologist. 2000;5(6):477-85 [11110599.001]
  • (PMID = 20845284.001).
  • [ISSN] 0017-8594
  • [Journal-full-title] Hawaii medical journal
  • [ISO-abbreviation] Hawaii Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC3118022
  •  go-up   go-down


70. Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, Parada LF, Mody I, Silva AJ: Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell; 2008 Oct 31;135(3):549-60
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We uncovered a role for ERK signaling in GABA release, long-term potentiation (LTP), and learning, and show that disruption of this mechanism accounts for the learning deficits in a mouse model for learning disabilities in neurofibromatosis type I (NF1).

  • COS Scholar Universe. author profiles.
  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • The Lens. Cited by Patents in .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] J Neurosci Res. 2006 Jan;83(1):28-38 [16342120.001]
  • [Cites] Curr Biol. 2005 Nov 8;15(21):1961-7 [16271875.001]
  • [Cites] Eur J Neurosci. 2007 Jan;25(1):99-105 [17241271.001]
  • [Cites] Neurosci Lett. 2008 Mar 5;433(1):22-7 [18226451.001]
  • [Cites] Cell Stem Cell. 2007 Oct 11;1(4):443-57 [18371380.001]
  • [Cites] Learn Mem. 1999 Sep-Oct;6(5):478-90 [10541468.001]
  • [Cites] Learn Mem. 2000 Jan;7(1):58-72 [10706603.001]
  • [Cites] Eur J Neurosci. 2000 Mar;12(3):810-8 [10762310.001]
  • [Cites] Am J Med Genet. 2000 Summer;97(2):119-27 [11180219.001]
  • [Cites] Genes Dev. 2001 Apr 1;15(7):859-76 [11297510.001]
  • [Cites] Brain Res Brain Res Rev. 2001 Aug;36(1):60-90 [11516773.001]
  • [Cites] Genesis. 2001 Oct;31(2):85-94 [11668683.001]
  • [Cites] Nature. 2002 Jan 31;415(6871):526-30 [11793011.001]
  • [Cites] Mol Cell Biol. 2002 Jul;22(14):5100-13 [12077339.001]
  • [Cites] Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):8980-5 [12084936.001]
  • [Cites] Neuron. 2002 Oct 24;36(3):493-505 [12408851.001]
  • [Cites] Neurol Clin. 2002 Aug;20(3):841-65 [12432832.001]
  • [Cites] J Neurosci. 2003 Jan 1;23(1):167-74 [12514213.001]
  • [Cites] Neuron. 2003 Apr 10;38(1):69-78 [12691665.001]
  • [Cites] J Neurophysiol. 2004 Feb;91(2):863-72 [14523073.001]
  • [Cites] Cell. 2004 Feb 6;116(3):467-79 [15016380.001]
  • [Cites] Curr Opin Neurobiol. 2004 Jun;14(3):311-7 [15194111.001]
  • [Cites] Trends Cell Biol. 2004 Jul;14(7):377-85 [15246431.001]
  • [Cites] Behav Neurosci. 2004 Aug;118(4):740-50 [15301601.001]
  • [Cites] J Neurosci. 2004 Sep 15;24(37):8153-60 [15371516.001]
  • [Cites] Nature. 1982 Jun 24;297(5868):681-3 [7088155.001]
  • [Cites] Int J Neurosci. 1989 Sep;48(1-2):29-69 [2684886.001]
  • [Cites] Cell. 1990 Aug 10;62(3):599-608 [2116237.001]
  • [Cites] Cell. 1990 Nov 16;63(4):843-9 [2121370.001]
  • [Cites] Science. 1992 May 1;256(5057):675-7 [1585183.001]
  • [Cites] Behav Neural Biol. 1994 Mar;61(2):150-5 [8204080.001]
  • [Cites] J Biol Chem. 1996 Oct 4;271(40):24329-32 [8798683.001]
  • [Cites] J Dev Behav Pediatr. 1996 Aug;17(4):229-39 [8856518.001]
  • [Cites] Nat Genet. 1997 Mar;15(3):281-4 [9054942.001]
  • [Cites] J Biol Chem. 1997 Aug 1;272(31):19103-6 [9235897.001]
  • [Cites] Neurobiol Learn Mem. 1997 Nov;68(3):203-20 [9398584.001]
  • [Cites] Behav Neurosci. 1998 Aug;112(4):863-74 [9733192.001]
  • [Cites] Nat Neurosci. 1998 Nov;1(7):602-9 [10196568.001]
  • [Cites] Learn Mem. 2005 Mar-Apr;12(2):150-8 [15805313.001]
  • [Cites] Learn Mem. 2005 May-Jun;12(3):327-33 [15897254.001]
  • [Cites] J Neurosci. 2005 Oct 19;25(42):9721-34 [16237176.001]
  • [Cites] Neuropharmacology. 2006 Nov;51(6):1023-9 [17046030.001]
  • (PMID = 18984165.001).
  • [ISSN] 1097-4172
  • [Journal-full-title] Cell
  • [ISO-abbreviation] Cell
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / NS038480-08; United States / NIMH NIH HHS / MH / R01 MH084315-09; United States / NIMH NIH HHS / MH / MH084315-09; United States / NINDS NIH HHS / NS / R01 NS038480-08; United States / NINDS NIH HHS / NS / NS30549; United States / NINDS NIH HHS / NS / R01 NS38480; United States / NINDS NIH HHS / NS / R01 NS038480
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1; 0 / Synapsins; 56-12-2 / gamma-Aminobutyric Acid; EC 2.7.11.24 / Extracellular Signal-Regulated MAP Kinases
  • [Other-IDs] NLM/ NIHMS78380; NLM/ PMC2673196
  •  go-up   go-down


71. Chen B, Sun LD, Zhou FS, Yao FM, Quan C, Fang QY, Chen QP, Fan X, Yang S, Zhang XJ: Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1. J Eur Acad Dermatol Venereol; 2009 Mar;23(3):362-3
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1.
  • [MeSH-major] Genes, Neurofibromatosis 1. Mutation. Neurofibromatosis 1 / genetics

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18643859.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 9007-49-2 / DNA
  •  go-up   go-down


72. Mantripragada KK, Díaz de Ståhl T, Patridge C, Menzel U, Andersson R, Chuzhanova N, Kluwe L, Guha A, Mautner V, Dumanski JP, Upadhyaya M: Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes Cancer; 2009 Oct;48(10):897-907
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors.
  • [MeSH-major] Comparative Genomic Hybridization / methods. Genes, Neurofibromatosis 1. Nerve Sheath Neoplasms / genetics. Neurofibromatosis 1 / genetics. Oligonucleotide Array Sequence Analysis / methods. Skin Neoplasms / genetics

  • MedlinePlus Health Information. consumer health - Skin Cancer.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Copyright] (c) 2009 Wiley-Liss, Inc.
  • (PMID = 19603524.001).
  • [ISSN] 1098-2264
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] eng
  • [Grant] United Kingdom / Cancer Research UK / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  •  go-up   go-down


73. Titze S, Peters H, Währisch S, Harder T, Guse K, Buske A, Tinschert S, Harder A: Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients. Eur J Hum Genet; 2010 Jan;18(1):81-7
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
  • Neurofibromatosis type 1 (NF1) is caused by NF1 gene mutations.
  • This finding was not confounded by age.
  • [MeSH-major] Blood Cells / metabolism. DNA Methylation / genetics. MutS Homolog 2 Protein / genetics. Neurofibromatosis 1 / genetics. Promoter Regions, Genetic

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
  • NCI CPTAC Assay Portal. NCI CPTAC Assay Portal .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Hum Mutat. 2003 Dec;22(6):423-7 [14635100.001]
  • [Cites] Oncogene. 2003 Jul 17;22(29):4581-5 [12881715.001]
  • [Cites] N Engl J Med. 1994 Mar 3;330(9):597-601 [8302341.001]
  • [Cites] Nat Genet. 1995 Sep;11(1):90-2 [7550323.001]
  • [Cites] JAMA. 1997 Jul 2;278(1):51-7 [9207339.001]
  • [Cites] Gene. 1998 Jun 15;213(1-2):141-7 [9630578.001]
  • [Cites] Cancer Res. 1999 Mar 1;59(5):1090-5 [10070967.001]
  • [Cites] Genes Chromosomes Cancer. 1999 Mar;24(3):283-5 [10451710.001]
  • [Cites] Eur J Cancer. 2004 Dec;40(18):2820-8 [15571966.001]
  • [Cites] Gastroenterology. 2005 May;128(5):1160-71 [15887099.001]
  • [Cites] Clin Cancer Res. 2005 Aug 1;11(15):5410-6 [16061855.001]
  • [Cites] J Thorac Cardiovasc Surg. 2005 Nov;130(5):1371 [16256791.001]
  • [Cites] Oncology. 2005;69(4):354-62 [16293975.001]
  • [Cites] Hum Mutat. 2006 Feb;27(2):155-62 [16395674.001]
  • [Cites] Cancer Lett. 2006 Feb 20;233(1):124-30 [16473673.001]
  • [Cites] Hum Mutat. 2006 Oct;27(10):1030-40 [16941471.001]
  • [Cites] Nat Genet. 2006 Oct;38(10):1178-83 [16951683.001]
  • [Cites] Am J Hum Genet. 2007 Jan;80(1):140-51 [17160901.001]
  • [Cites] Eur J Hum Genet. 2008 Jan;16(1):62-72 [17851451.001]
  • [Cites] Mutat Res. 2008 Jan 1;637(1-2):209-14 [17889038.001]
  • [Cites] N Engl J Med. 2008 Mar 13;358(11):1148-59 [18337604.001]
  • [Cites] Hum Pathol. 2008 May;39(5):672-80 [18329696.001]
  • [Cites] Am J Hum Genet. 2000 Mar;66(3):790-818 [10712197.001]
  • [Cites] Am J Hum Genet. 1993 Aug;53(2):305-13 [8328449.001]
  • [Cites] Hum Genet. 2008 Sep;124(2):105-22 [18709565.001]
  • [Cites] Hum Mol Genet. 2000 Apr 12;9(7):1059-66 [10767330.001]
  • [Cites] Hum Mutat. 2000;15(6):541-55 [10862084.001]
  • [Cites] Hum Mol Genet. 2000 Dec 12;9(20):3055-64 [11115850.001]
  • [Cites] Cancer Res. 2002 Jan 1;62(1):38-42 [11782355.001]
  • [Cites] Genet Epidemiol. 2002 Aug;23(2):150-64 [12214308.001]
  • [Cites] Hum Genet. 2003 Feb;112(2):117-23 [12522551.001]
  • [ErratumIn] Eur J Hum Genet. 2010 Apr;18(4):509
  • (PMID = 19639020.001).
  • [ISSN] 1476-5438
  • [Journal-full-title] European journal of human genetics : EJHG
  • [ISO-abbreviation] Eur. J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Adaptor Proteins, Signal Transducing; 0 / DNA-Binding Proteins; 0 / G-T mismatch-binding protein; 0 / MLH1 protein, human; 0 / Nuclear Proteins; EC 3.6.1.- / Adenosine Triphosphatases; EC 3.6.1.- / PMS2 protein, human; EC 3.6.1.3 / MSH2 protein, human; EC 3.6.1.3 / MutS Homolog 2 Protein; EC 6.5.1.- / DNA Repair Enzymes
  • [Other-IDs] NLM/ PMC2987165
  •  go-up   go-down


74. Rowe J, Grainger A, Walton L, Radatz M, Kemeny A: Safety of radiosurgery applied to conditions with abnormal tumor suppressor genes. Neurosurgery; 2007 May;60(5):860-4; discussion 860-4
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • OBJECTIVE: To assess the risk of radiosurgery inducing malignancy in neurofibromatosis-2 (NF2) and von Hippel-Lindau disease.
  • METHODS: A retrospective cohort study of 118 NF2 and 19 von Hippel-Lindau disease patients, totalling 906 and 62 patient-years of follow-up data, respectively.
  • RESULTS: Two cases of intracranial malignancy were identified, both of which occurred in NF2 patients.
  • CONCLUSION: Because gliomas may occur in as many as 4% of NF2 patients, this may not represent an increased risk.
  • We continue to offer radiosurgery treatment to selected NF2 and von Hippel-Lindau disease patients and consider that the late risk of malignancy arising after irradiation must be put in the context of the condition being treated, the treatment options available to these individuals, and their life expectancy.
  • [MeSH-minor] Adult. Cohort Studies. Female. Follow-Up Studies. Humans. Male. Middle Aged. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / surgery. Retrospective Studies. von Hippel-Lindau Disease / epidemiology. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / surgery

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17460521.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  •  go-up   go-down


75. Dereure O: [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm]. Ann Dermatol Venereol; 2008 Dec;135(12):888-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm].
  • [Transliterated title] Caractérisation moléculaire de SMARCB1 et NF2 dans la schwannomatose familiale et sporadique : un paradigme qui évolue.
  • [MeSH-major] Chromosomal Proteins, Non-Histone. DNA-Binding Proteins. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Transcription Factors
  • [MeSH-minor] Animals. Chromosomes, Human, Pair 22 / genetics. Disease Models, Animal. Humans. Mice. Mutation

  • Genetic Alliance. consumer health - Schwannomatosis.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19084709.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
  •  go-up   go-down


76. Holland K, Kaye AH: Spinal tumors in neurofibromatosis-2: management considerations - a review. J Clin Neurosci; 2009 Feb;16(2):169-77
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spinal tumors in neurofibromatosis-2: management considerations - a review.
  • Neurofibromatosis Type 2 (NF-2) is a distinct clinical entity, characterized by multiple intracranial and spinal tumors.
  • While bilateral vestibular schwannomas are the pathological hallmark of the disease, significant morbidity in NF-2 is attributable to the presence of both intramedullary and extramedullary spinal tumors.
  • With the advent of MRI as a screening modality, multiple, extensive spinal tumors in the NF-2 population are often seen, which may be clinically quiescent at the time of initial diagnosis.
  • All NF-2 patients should have routine screening with full spinal MRI at the time of diagnosis, regardless of symptoms.
  • [MeSH-major] Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / therapy. Spinal Neoplasms / diagnosis. Spinal Neoplasms / therapy

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19101145.001).
  • [ISSN] 0967-5868
  • [Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • [ISO-abbreviation] J Clin Neurosci
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Scotland
  • [Number-of-references] 44
  •  go-up   go-down


77. Li W, Giancotti FG: Merlin's tumor suppression linked to inhibition of the E3 ubiquitin ligase CRL4 (DCAF1). Cell Cycle; 2010 Nov 15;9(22):4433-6
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The mechanism by which the FERM domain protein Merlin, encoded by the tumor suppressor NF2, restrains cell proliferation is poorly understood.
  • In addition to providing a potential explanation for the diverse effects that loss of Merlin exerts in multiple cell types, these findings suggest that compounds inhibiting CRL4 (DCAF1) may display therapeutic efficacy in Neurofibromatosis type 2 and other cancers driven by Merlin inactivation.

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Mol Cell Biol. 2008 Feb;28(4):1274-84 [18086884.001]
  • [Cites] Genes Dev. 2007 Nov 1;21(21):2747-61 [17974916.001]
  • [Cites] Oncogene. 2009 Feb 12;28(6):854-65 [19029950.001]
  • [Cites] Dev Cell. 2009 Mar;16(3):411-20 [19289086.001]
  • [Cites] Nature. 2009 Apr 9;458(7239):732-6 [19360080.001]
  • [Cites] Mol Cell. 2009 May 14;34(4):451-60 [19481525.001]
  • [Cites] Curr Opin Oncol. 2009 Mar;21(2):124-30 [19532013.001]
  • [Cites] Mol Cell Biol. 2009 Aug;29(15):4250-61 [19451225.001]
  • [Cites] Mol Cell Biol. 2009 Aug;29(15):4235-49 [19451229.001]
  • [Cites] Dev Cell. 2010 Feb 16;18(2):288-99 [20159598.001]
  • [Cites] Dev Cell. 2010 Feb 16;18(2):300-8 [20159599.001]
  • [Cites] Dev Cell. 2010 Feb 16;18(2):309-16 [20159600.001]
  • [Cites] Cell. 2010 Feb 19;140(4):477-90 [20178741.001]
  • [Cites] Genes Dev. 2010 May;24(9):862-74 [20439427.001]
  • [Cites] Dev Cell. 2010 Jul 20;19(1):27-38 [20643348.001]
  • [Cites] Hum Mol Genet. 2003 Jun 1;12(11):1211-21 [12761036.001]
  • [Cites] Mol Cell. 2003 Oct;12(4):841-9 [14580336.001]
  • [Cites] Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18200-5 [15598747.001]
  • [Cites] Genes Dev. 2005 Oct 1;19(19):2265-77 [16204178.001]
  • [Cites] J Cell Biol. 2005 Oct 24;171(2):361-71 [16247032.001]
  • [Cites] Nat Cell Biol. 2006 Jan;8(1):27-36 [16341207.001]
  • [Cites] Curr Biol. 2006 Apr 4;16(7):702-9 [16581517.001]
  • [Cites] Nature. 2006 Aug 3;442(7102):576-9 [16885985.001]
  • [Cites] Nat Genet. 2006 Oct;38(10):1142-50 [16980976.001]
  • [Cites] Oncogene. 2006 Sep 28;25(44):5960-8 [16652148.001]
  • [Cites] Dev Dyn. 2006 Oct;235(10):2771-85 [16894610.001]
  • [Cites] Cancer Res. 2007 Jan 15;67(2):520-7 [17234759.001]
  • [Cites] Nat Rev Cancer. 2007 Mar;7(3):182-91 [17318211.001]
  • [Cites] Curr Opin Cell Biol. 2007 Apr;19(2):206-14 [17314036.001]
  • [Cites] Genes Dev. 2007 Apr 15;21(8):886-97 [17437995.001]
  • [Cites] Trends Cell Biol. 2007 May;17(5):222-9 [17442573.001]
  • [Cites] J Cell Biol. 2007 Jun 4;177(5):893-903 [17548515.001]
  • [Cites] Mol Cell. 2007 Jun 22;26(6):775-80 [17588513.001]
  • [Cites] Cancer Res. 2008 Jul 1;68(13):5236-45 [18593924.001]
  • (PMID = 21084862.001).
  • [ISSN] 1551-4005
  • [Journal-full-title] Cell cycle (Georgetown, Tex.)
  • [ISO-abbreviation] Cell Cycle
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P30 CA008748; United States / NCI NIH HHS / CA / R01 CA152975; United States / NCI NIH HHS / CA / P30 CA08748
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Carrier Proteins; 0 / Neurofibromin 2; EC 6.3.2.19 / Ubiquitin-Protein Ligases
  • [Other-IDs] NLM/ PMC3048042
  •  go-up   go-down


78. Simon M, Boström JP, Hartmann C: Molecular genetics of meningiomas: from basic research to potential clinical applications. Neurosurgery; 2007 May;60(5):787-98; discussion 787-98
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Mutations in the NF2 gene probably account for the formation of more than half of all meningiomas.
  • On the other hand, the molecular events underlying the initiation of meningiomas without NF2 mutations have yet to be identified.

  • SciCrunch. KEGG: Data: Disease Annotation .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 17460514.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 119
  •  go-up   go-down


79. Halleck P, Haisch A, Sedlmaier B: [Differential diagnoses of acute bilateral hearing loss in a patient with metastatic bronchial carcinoma]. HNO; 2006 Jul;54(7):553-6
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Differential diagnoses of acute bilateral hearing loss in a patient with metastatic bronchial carcinoma].
  • The first symptom of an acoustic neuroma in about 50% of the patients is hearing loss, which occurs suddenly in about 5-10% of cases.
  • The discussion ultimately focused on the clinical and radiological signs of bilateral acoustic neuroma.
  • The patient's history and clinical findings yielded no indication of neurofibromatosis (type 1/2).
  • Nevertheless, the constellation of findings suggests that the bilateral hearing loss was caused by a bilateral acoustic neuroma.
  • [MeSH-major] Bronchial Neoplasms / diagnosis. Hearing Loss, Bilateral / diagnosis. Hearing Loss, Bilateral / etiology. Neuroma, Acoustic / diagnosis. Neuroma, Acoustic / secondary
  • [MeSH-minor] Acute Disease. Diagnosis, Differential. Humans. Male. Middle Aged

  • MedlinePlus Health Information. consumer health - Acoustic Neuroma.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Rev Neurol. 2000 Dec 16-31;31(12):1213-9 [11205562.001]
  • [Cites] Med Klin (Munich). 2001 Sep 15;96(9):545-9 [11603118.001]
  • [Cites] J Exp Clin Cancer Res. 2003 Mar;22(1):155-8 [12725337.001]
  • [Cites] Anticancer Res. 2003 Mar-Apr;23(2B):1249-55 [12820379.001]
  • (PMID = 16132878.001).
  • [ISSN] 0017-6192
  • [Journal-full-title] HNO
  • [ISO-abbreviation] HNO
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
  •  go-up   go-down


80. Stewart W, Traynor JP, Cooke A, Griffiths S, Onen NF, Balsitis M, Shah AA, Upadhyaya M, Tobias ES: Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. Fam Cancer; 2007;6(1):147-52
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene.
  • Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominantly inherited conditions.
  • [MeSH-major] Genes, Neurofibromatosis 1. Germ-Line Mutation. Loss of Heterozygosity. Malignant Carcinoid Syndrome / genetics. Neoplasms, Second Primary / genetics. Neurofibromatosis 1 / genetics. Stomach Neoplasms / genetics

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • Genetic Alliance. consumer health - Neurofibromatosis type 1.
  • MedlinePlus Health Information. consumer health - Stomach Cancer.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Ohio State Med J. 1970 Jun;66(6):583-6 [4986649.001]
  • [Cites] Histopathology. 1991 Jul;19(1):1-11 [1916682.001]
  • [Cites] Brain Pathol. 1995 Apr;5(2):153-62 [7670656.001]
  • [Cites] Hum Genet. 2003 Feb;112(2):117-23 [12522551.001]
  • [Cites] Gastroenterology. 2004 Feb;126(2):576-85 [14762794.001]
  • [Cites] Surgery. 1986 Dec;100(6):1163-9 [2878497.001]
  • [Cites] Genes Chromosomes Cancer. 1992 Jun;4(4):337-42 [1377942.001]
  • [Cites] Hum Mutat. 2004 Feb;23(2):134-46 [14722917.001]
  • [Cites] Cancer Res. 1995 Dec 1;55(23):5677-80 [7585653.001]
  • [Cites] Hum Genet. 2001 Nov;109(5):487-97 [11735023.001]
  • [Cites] Cancer Res. 1999 Jan 15;59(2):290-3 [9927033.001]
  • [Cites] Nat Genet. 1993 Feb;3(2):122-6 [8499945.001]
  • [Cites] J Med Genet. 2003 Oct;40(10):e109 [14569132.001]
  • [Cites] J Med Genet. 2003 Oct;40(10):e116 [14569139.001]
  • [Cites] J Med Genet. 2000 Jan;37(1):44-9 [10633134.001]
  • [Cites] Cell. 1990 Nov 16;63(4):843-9 [2121370.001]
  • [Cites] Eur J Surg Oncol. 2000 Jun;26(4):428-9 [10873367.001]
  • [Cites] Lancet. 1998 Sep 5;352(9130):799-805 [9737302.001]
  • [Cites] Cancer. 1983 Jun 15;51(12):2206-8 [6406032.001]
  • [Cites] Cancer. 1990 Apr 1;65(7):1591-5 [1968779.001]
  • [Cites] Q J Med. 1987 Sep;64(245):769-82 [2897130.001]
  • [Cites] Am J Med Genet. 1996 Jul 26;67(4):421-3 [8837715.001]
  • [Cites] J Med Genet. 1996 Jan;33(1):2-17 [8825042.001]
  • [Cites] Endocr Relat Cancer. 2003 Dec;10(4):437-50 [14713256.001]
  • (PMID = 16944271.001).
  • [ISSN] 1389-9600
  • [Journal-full-title] Familial cancer
  • [ISO-abbreviation] Fam. Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Neurofibromin 1
  •  go-up   go-down


81. Hagel C, Zils U, Peiper M, Kluwe L, Gotthard S, Friedrich RE, Zurakowski D, von Deimling A, Mautner VF: Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors. J Neurooncol; 2007 Apr;82(2):187-92
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The differences in the clinical course and histopathology of sporadic and neurofibromatosis type 1 (NF1)-associated malignant peripheral nerve sheath tumors (MPNST) were investigated retrospectively.
  • NF1 patients were significantly younger at diagnosis (p<0.001) and had a significantly shorter survival time than sporadic patients (median survival 17 months vs. 42 months, Breslow p<0.05).
  • Most importantly, while histopathological variables correlated with French Fédération Nationale des Centres de Lutte Contre le Cancer grading in sporadic MPNST, this was not the case for NF1-associated tumors.
  • [MeSH-major] Nerve Sheath Neoplasms / pathology. Neurofibromatosis 1 / pathology. Peripheral Nervous System Neoplasms / pathology

  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Am J Pathol. 1999 Dec;155(6):1879-84 [10595918.001]
  • [Cites] Cancer. 1984 Feb 1;53(3):530-41 [6692258.001]
  • [Cites] Eur J Surg Oncol. 1999 Apr;25(2):190-3 [10218464.001]
  • [Cites] J Med Genet. 2002 May;39(5):311-4 [12011145.001]
  • [Cites] Am J Med Genet. 2000 Aug 28;93(5):388-92 [10951462.001]
  • [Cites] J Clin Invest. 2000 May;105(9):1233-41 [10791998.001]
  • [Cites] J Neuropathol Exp Neurol. 2005 Jan;64(1):74-81 [15715087.001]
  • [Cites] Brain Pathol. 2004 Jul;14(3):297-303 [15446585.001]
  • [Cites] Am J Pathol. 2001 Jul;159(1):57-61 [11438454.001]
  • [Cites] JAMA. 1997 Jul 2;278(1):51-7 [9207339.001]
  • [Cites] Arch Neurol. 1988 May;45(5):575-8 [3128965.001]
  • [Cites] Am J Clin Pathol. 1996 Sep;106(3):282-8 [8816583.001]
  • [Cites] Cancer. 1986 Jul 15;58(2):306-9 [3719523.001]
  • [Cites] Neurosurg Clin N Am. 2004 Apr;15(2):203-16 [15177319.001]
  • [Cites] Arch Dermatol. 2001 Jul;137(7):908-13 [11453810.001]
  • [Cites] J Clin Oncol. 1997 Jan;15(1):350-62 [8996162.001]
  • [Cites] Am J Pathol. 1999 Dec;155(6):1885-91 [10595919.001]
  • [Cites] Cancer. 1990 Sep 15;66(6):1253-65 [2119249.001]
  • [Cites] Int J Radiat Oncol Biol Phys. 1998 Sep 1;42(2):351-60 [9788415.001]
  • [Cites] Otolaryngol Head Neck Surg. 2000 May;122(5):667-72 [10793343.001]
  • [Cites] Cancer. 1986 May 15;57(10):2006-21 [3082508.001]
  • (PMID = 17111191.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  •  go-up   go-down


82. Franzin A, Spatola G, Serra C, Picozzi P, Medone M, Milani D, Castellazzi P, Mortini P: Evaluation of hearing function after Gamma Knife surgery of vestibular schwannomas. Neurosurg Focus; 2009 Dec;27(6):E3
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evaluation of hearing function after Gamma Knife surgery of vestibular schwannomas.
  • OBJECT: Due to technological advances in neuroradiology in recent years, incidental diagnoses of vestibular schwannomas (VSs) have increased.
  • METHODS: Of all patients treated in the authors' hospital between 2001 and 2007, they retrospectively studied 50 patients with a unilateral VS in whom there was serviceable hearing (Gardner-Robertson [GR] Class I or II).
  • Additional inclusion criteria were: no Type 2 neurofibromatosis, no previous treatment, and at least 6 months' follow-up of neuroradiological and audiological data.
  • Serviceable hearing was preserved in 34 patients (68%): 21 (62%) with GR Class I hearing and 13 (38%) with GR Class II hearing.
  • In 19 (58%) of 33 patients with GR Class I function before GKS the same class was maintained posttreatment; 29 (88%) maintained functional hearing (GR Class I or II).
  • Significant prognostic factors for maintaining serviceable hearing were GR Class I function before treatment, symptoms at presentation, patient age younger than 54 years, and Koos Stage T1 disease.
  • The prescribed dose of 13 Gy appears to represent an excellent compromise between controlling the disease and preserving auditory function.
  • [MeSH-major] Hearing Loss / prevention & control. Neuroma, Acoustic / surgery. Postoperative Complications / prevention & control. Radiosurgery / methods

  • MedlinePlus Health Information. consumer health - Acoustic Neuroma.
  • MedlinePlus Health Information. consumer health - After Surgery.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 19951056.001).
  • [ISSN] 1092-0684
  • [Journal-full-title] Neurosurgical focus
  • [ISO-abbreviation] Neurosurg Focus
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


83. Hottinger AF, Khakoo Y: Update on the management of familial central nervous system tumor syndromes. Curr Neurol Neurosci Rep; 2007 May;7(3):200-7
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Update on the management of familial central nervous system tumor syndromes.
  • Hereditary central nervous tumor syndromes are a varied group of conditions that include neurofibromatosis type 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, and Cowden, Turcot, and Gorlin syndromes.
  • Familial central nervous system tumors are mostly inherited as autosomal dominant traits and involve germline mutations.
  • [MeSH-major] Central Nervous System Neoplasms. Neoplastic Syndromes, Hereditary
  • [MeSH-minor] Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / pathology. Basal Cell Nevus Syndrome / physiopathology. Basal Cell Nevus Syndrome / therapy. Diagnosis, Differential. Hamartoma Syndrome, Multiple / genetics. Hamartoma Syndrome, Multiple / pathology. Hamartoma Syndrome, Multiple / physiopathology. Hamartoma Syndrome, Multiple / therapy. Humans. Li-Fraumeni Syndrome / genetics. Li-Fraumeni Syndrome / pathology. Li-Fraumeni Syndrome / physiopathology. Li-Fraumeni Syndrome / therapy. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Neurofibromatosis 1 / physiopathology. Neurofibromatosis 1 / therapy. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / physiopathology. Neurofibromatosis 2 / therapy. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology. Tuberous Sclerosis / physiopathology. Tuberous Sclerosis / therapy. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / pathology. von Hippel-Lindau Disease / physiopathology. von Hippel-Lindau Disease / therapy

  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Can J Neurol Sci. 1997 May;24(2):155-60 [9164695.001]
  • [Cites] Q J Med. 1992 Aug;84(304):603-18 [1484939.001]
  • [Cites] Cancer Res. 2003 Oct 15;63(20):6643-50 [14583457.001]
  • [Cites] Neurosurgery. 1996 Jun;38(6):1114-8; discussion 1118-9 [8727140.001]
  • [Cites] Neurology. 2004 Nov 23;63(10):1944-6 [15557519.001]
  • [Cites] J Neurosurg. 1997 May;86(5):747-54 [9126887.001]
  • [Cites] J Neurosurg. 2003 Jan;98(1):82-94 [12546356.001]
  • [Cites] Nat Genet. 1998 Aug;19(4):348-55 [9697695.001]
  • [Cites] Cancer Lett. 2006 Sep 28;241(2):184-96 [16412571.001]
  • [Cites] N Engl J Med. 2006 Jun 22;354(25):2729-31 [16790714.001]
  • [Cites] J Neurosurg. 2001 Feb;94(2):217-23 [11213957.001]
  • [Cites] Neurol India. 2006 Sep;54(3):276-8 [16936388.001]
  • [Cites] Curr Opin Neurol. 2003 Dec;16(6):657-64 [14624073.001]
  • [Cites] N Engl J Med. 2006 Sep 28;355(13):1345-56 [17005952.001]
  • [Cites] Brain Pathol. 1995 Apr;5(2):145-51 [7670655.001]
  • [Cites] Am J Med Genet A. 2003 Oct 1;122A(2):95-9 [12955759.001]
  • [Cites] Am J Med Genet. 1999 Mar 26;89(1):1-6 [10469430.001]
  • [Cites] Nat Cell Biol. 2006 Jan;8(1):27-36 [16341207.001]
  • [Cites] N Engl J Med. 2007 Jan 11;356(2):125-34 [17215530.001]
  • [Cites] Ann Neurol. 1999 Mar;45(3):393-6 [10072056.001]
  • [Cites] Fam Cancer. 2005;4(1):37-42 [15883708.001]
  • [Cites] Pediatr Blood Cancer. 2006 May 1;46(5):586-96 [16411210.001]
  • [Cites] J Child Neurol. 2005 Apr;20(4):318-25 [15921233.001]
  • [Cites] Neurology. 2005 Feb 8;64(3):553-5 [15699396.001]
  • [Cites] Ear Nose Throat J. 2002 Dec;81(12):831-3 [12516377.001]
  • [Cites] Neoplasia. 2004 Jul-Aug;6(4):310-22 [15256053.001]
  • [Cites] Curr Opin Neurobiol. 2002 Oct;12 (5):516-22 [12367630.001]
  • [Cites] Otol Neurotol. 2006 Sep;27(6):838-43 [16936570.001]
  • [Cites] Medicine (Baltimore). 1987 Mar;66(2):98-113 [3547011.001]
  • [Cites] Surv Ophthalmol. 2001 Sep-Oct;46(2):117-42 [11578646.001]
  • [Cites] Am J Hum Genet. 2002 Oct;71(4):715-23 [12235555.001]
  • [Cites] Neurosurgery. 1996 Feb;38(2):265-71 [8869053.001]
  • [Cites] Nature. 1988 Mar 17;332(6161):268-9 [2894613.001]
  • [Cites] Br J Neurosurg. 2003 Aug;17(4):327-35 [14579898.001]
  • [Cites] J Child Neurol. 1999 Jun;14(6):352-6 [10385841.001]
  • [Cites] Neurology. 1993 Jul;43(7):1436-7 [8327154.001]
  • [Cites] Ann Neurol. 1997 Feb;41(2):143-9 [9029062.001]
  • [Cites] JAMA. 1997 May 14;277(18):1461-6 [9145719.001]
  • [Cites] Eur J Cancer. 2006 Aug;42(12):1807-16 [16809032.001]
  • [Cites] Neurosurgery. 2000 Oct;47(4):888-901 [11014429.001]
  • [Cites] Arch Neurol. 1988 May;45(5):575-8 [3128965.001]
  • [Cites] J Med Genet. 2006 Apr;43(4):289-94 [16155191.001]
  • [Cites] Pediatr Neurosurg. 2004 Nov-Dec;40(6):301-5 [15821362.001]
  • [Cites] Neurosurgery. 1997 Feb;40(2):331-7; discussion 337-8 [9007866.001]
  • [Cites] Microsurgery. 2006;26(2):80-6 [16538633.001]
  • [Cites] Cancer J. 2004 Jan-Feb;10(1):20-6 [15000491.001]
  • [Cites] N Engl J Med. 1995 Mar 30;332(13):839-47 [7661930.001]
  • [Cites] Cancer. 1999 Jun 15;85(12):2662-7 [10375116.001]
  • [Cites] Bull Cancer. 2001 Jun;88(6):581-7 [11459705.001]
  • [Cites] J Pediatr. 1994 Apr;124(4):S1-8 [8151460.001]
  • [Cites] JAMA. 1995 Feb 15;273(7):564-70 [7837390.001]
  • [Cites] Neurology. 2006 Mar 28;66(6):E23-4 [16567690.001]
  • [Cites] J Child Neurol. 2004 Sep;19(9):680-6 [15563014.001]
  • [Cites] Ann Neurol. 2006 Mar;59(3):490-8 [16453317.001]
  • [Cites] J Neurosurg. 1989 Apr;70(4):536-44 [2926493.001]
  • [Cites] Am J Pathol. 1997 Jan;150(1):1-13 [9006316.001]
  • [Cites] Neuroradiology. 1990;32(1):33-7 [2185433.001]
  • [Cites] J Clin Oncol. 2006 Dec 10;24(35):5601-8 [17158546.001]
  • [Cites] Jpn J Clin Oncol. 2006 Jun;36(6):337-43 [16818478.001]
  • [Cites] J Child Neurol. 1998 Dec;13(12 ):624-8 [9881533.001]
  • [Cites] J Neurosurg. 1994 Nov;81(5):690-8 [7931615.001]
  • [Cites] J Intern Med. 1998 Jun;243(6):547-53 [9681857.001]
  • [Cites] J Pediatr. 2003 Nov;143(5):620-4 [14615733.001]
  • [Cites] J Neurosurg. 2003 Jan;98(1):95-105 [12546357.001]
  • [Cites] Hum Mol Genet. 2001 Apr;10(7):747-55 [11257108.001]
  • [Cites] Pediatr Neurosci. 1987;13(2):98-107 [3325954.001]
  • [Cites] J Clin Oncol. 2006 Jan 20;24(3):507-16 [16421428.001]
  • [Cites] Br J Neurosurg. 2005 Feb;19(1):5-12 [16147576.001]
  • [Cites] Neurology. 2004 Oct 26;63(8):1457-61 [15505165.001]
  • [Cites] Am J Med Genet. 1994 Oct 1;52(4):450-61 [7747758.001]
  • [Cites] Neurosurgery. 2001 Jan;48(1):55-62; discussion 62-3 [11152361.001]
  • (PMID = 17488585.001).
  • [ISSN] 1528-4042
  • [Journal-full-title] Current neurology and neuroscience reports
  • [ISO-abbreviation] Curr Neurol Neurosci Rep
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 71
  •  go-up   go-down


84. Jatana KR, Jacob A, Slone HW, Ray-Chaudhury A, Welling DB: Spinal myxopapillary ependymoma metastatic to bilateral internal auditory canals. Ann Otol Rhinol Laryngol; 2008 Feb;117(2):98-102
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spinal myxopapillary ependymoma metastatic to bilateral internal auditory canals.
  • OBJECTIVES: We report a rare case of spinal myxopapillary ependymoma metastatic to both internal auditory canals (IACs) and its implications for diagnosing neurofibromatosis type 2 (NF2).
  • METHODS: We present a detailed clinical history, magnetic resonance imaging (MRI), intraoperative photographs, and histopathologic findings from a patient with bilateral IAC lesions, and review the diagnostic criteria for NF2.
  • The diagnosis of NF2 with bilateral vestibular schwannomas was entertained.
  • This finding raised the possibility of other, more unusual IAC lesions.
  • The patient underwent sequential suboccipital craniotomies for tissue diagnosis, and both IAC lesions were found to be myxopapillary ependymomas.
  • Although vestibular schwannomas account for the majority of contrast-enhancing T1-weighted IAC lesions, other uncommon lesions may present in a similar manner.
  • Therefore, both T1-weighted MRI with or without contrast and T2-weighted MRI may be necessary to distinguish vestibular schwannoma from other, more unusual IAC lesions.
  • [MeSH-major] Ear Neoplasms / diagnosis. Ear Neoplasms / secondary. Ependymoma / diagnosis. Ependymoma / secondary. Labyrinth Diseases / diagnosis. Spinal Cord Neoplasms / pathology

  • Genetic Alliance. consumer health - Ependymoma.
  • Genetic Alliance. consumer health - Myxopapillary ependymoma.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18357830.001).
  • [ISSN] 0003-4894
  • [Journal-full-title] The Annals of otology, rhinology, and laryngology
  • [ISO-abbreviation] Ann. Otol. Rhinol. Laryngol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  •  go-up   go-down


85. Padmanabhan A, Lee JS, Ismat FA, Lu MM, Lawson ND, Kanki JP, Look AT, Epstein JA: Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI. Proc Natl Acad Sci U S A; 2009 Dec 29;106(52):22305-10
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI.
  • Von Recklinghausen neurofibromatosis is a common autosomal dominant genetic disorder characterized by benign and malignant tumors of neural crest origin.
  • Significant progress in understanding the pathophysiology of this disease has occurred in recent years, largely aided by the development of relevant animal models.
  • Von Recklinghausen neurofibromatosis is caused by mutations in the NF1 gene, which encodes neurofibromin, a large protein that modulates the activity of Ras.
  • Development of a zebrafish model of von Recklinghausen neurofibromatosis will allow for structure-function analysis and genetic screens in this tractable vertebrate system.

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • COS Scholar Universe. author profiles.
  • Gene Ontology. gene/protein/disease-specific - Gene Ontology annotations from this paper .
  • SciCrunch. ZFIN: Data: Gene Expression .
  • ZFIN. ZFIN .
  • eagle-i research resources. PMID 19966217 (University of Pennsylvania) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Science. 1999 Dec 10;286(5447):2172-6 [10591652.001]
  • [Cites] Science. 1999 Dec 10;286(5447):2176-9 [10591653.001]
  • [Cites] Nat Genet. 2000 Sep;26(1):109-13 [10973261.001]
  • [Cites] Cell. 2001 Feb 23;104(4):593-604 [11239415.001]
  • [Cites] Nat Genet. 2001 Apr;27(4):399-405 [11279521.001]
  • [Cites] Genes Dev. 2001 Apr 1;15(7):859-76 [11297510.001]
  • [Cites] Trends Cardiovasc Med. 2000 Nov;10(8):352-60 [11369262.001]
  • [Cites] J Neurosci. 2001 Jun 1;21(11):3764-70 [11356864.001]
  • [Cites] Nat Neurosci. 2002 Feb;5(2):95-6 [11788835.001]
  • [Cites] Nature. 2002 Jan 31;415(6871):526-30 [11793011.001]
  • [Cites] Science. 2002 May 3;296(5569):920-2 [11988578.001]
  • [Cites] Cancer Res. 2002 Aug 1;62(15):4507-13 [12154062.001]
  • [Cites] Genet Med. 2002 May-Jun;4(3):105-11 [12180143.001]
  • [Cites] J Child Neurol. 2002 Aug;17(8):562-70; discussion 571-2, 646-51 [12403554.001]
  • [Cites] Nat Genet. 2003 Jan;33(1):75-9 [12469121.001]
  • [Cites] Development. 2003 Nov;130(21):5281-90 [12954720.001]
  • [Cites] Am J Hum Genet. 2003 Dec;73(6):1240-9 [14639529.001]
  • [Cites] Circ Res. 2004 Feb 20;94(3):273-83 [14976138.001]
  • [Cites] Pediatr Res. 2004 Apr;55(4):581-4 [14739366.001]
  • [Cites] Blood. 2004 Jun 1;103(11):4243-50 [14982883.001]
  • [Cites] Dev Cell. 2004 Jul;7(1):107-16 [15239958.001]
  • [Cites] Dev Cell. 2004 Jul;7(1):117-23 [15239959.001]
  • [Cites] Nat Genet. 1994 Jul;7(3):353-61 [7920653.001]
  • [Cites] Genes Dev. 1994 May 1;8(9):1019-29 [7926784.001]
  • [Cites] Nature. 1995 Oct 26;377(6551):695-701 [7477259.001]
  • [Cites] Nat Genet. 1997 Mar;15(3):281-4 [9054942.001]
  • [Cites] Science. 1997 May 2;276(5313):791-4 [9115203.001]
  • [Cites] Science. 1997 May 2;276(5313):795-8 [9115204.001]
  • [Cites] Brain Res. 1997 Jun 6;759(1):149-52 [9219873.001]
  • [Cites] Neurobiol Dis. 1995 Feb;2(1):13-21 [8980005.001]
  • [Cites] Blood. 1998 Jul 1;92(1):267-72 [9639526.001]
  • [Cites] Science. 1998 Nov 27;282(5394):1711-4 [9831563.001]
  • [Cites] Cancer Cell. 2005 Aug;8(2):119-30 [16098465.001]
  • [Cites] Proc Natl Acad Sci U S A. 2006 Apr 25;103(17):6554-9 [16617120.001]
  • [Cites] J Clin Invest. 2006 Sep;116(9):2378-84 [16906226.001]
  • [Cites] Dev Biol. 2006 Nov 15;299(2):551-62 [16999953.001]
  • [Cites] J Med Genet. 2007 Feb;44(2):81-8 [17105749.001]
  • [Cites] PLoS Genet. 2007 May 25;3(5):e78 [17530925.001]
  • [Cites] Oncogene. 2007 Jul 12;26(32):4609-16 [17297459.001]
  • [Cites] Cancer Cell. 2008 Feb;13(2):105-16 [18242511.001]
  • [Cites] Cancer Cell. 2008 Feb;13(2):117-28 [18242512.001]
  • [Cites] Cancer Cell. 2008 Feb;13(2):129-40 [18242513.001]
  • [Cites] Cell Stem Cell. 2007 Oct 11;1(4):443-57 [18371380.001]
  • [Cites] Circ Res. 2008 Jun 6;102(11):1350-8 [18467631.001]
  • [Cites] Hum Mutat. 2008 Jul;29(7):959-65 [18446851.001]
  • [Cites] PLoS One. 2008;3(8):e2850 [18682746.001]
  • [Cites] J Neurol Neurosurg Psychiatry. 2008 Oct;79(10):1165-70 [18469031.001]
  • [Cites] Cell. 2008 Oct 31;135(3):437-48 [18984156.001]
  • (PMID = 19966217.001).
  • [ISSN] 1091-6490
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] ENG
  • [Grant] United States / NHLBI NIH HHS / HL / K08 HL075179; United States / NHLBI NIH HHS / HL / R01 HL062974; United States / NHLBI NIH HHS / HL / K08-HL075179; United States / NHLBI NIH HHS / HL / R01-HL062974
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oligodeoxyribonucleotides, Antisense
  • [Other-IDs] NLM/ PMC2799742
  •  go-up   go-down


86. McClatchey AI: Neurofibromatosis. Annu Rev Pathol; 2007;2:191-216
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neurofibromatosis.
  • As familial cancer syndromes, the neurofibromatoses exhibit complex phenotypes, comprising a range of tumor and nontumor manifestations.
  • Although the three recognized forms of neurofibromatosis (NF1, NF2, and schwannomatosis) all feature the development of nervous system tumors, their underlying genetic bases are clearly distinct.
  • Recent progress in delineating the molecular function of the NF1- and NF2-encoded proteins, together with the development and use of manipulable mouse models, has led to important advances in understanding the pathogenesis of many features of neurofibromatosis.
  • An important outcome of the study of neurofibromatosis-associated tumorigenesis has been insight into the more general molecular and cellular bases of nervous system tumors.
  • [MeSH-major] Nervous System Neoplasms / pathology. Neurilemmoma / pathology. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / pathology
  • [MeSH-minor] Animals. Disease Models, Animal. Humans. Mice. Neurofibromin 1 / genetics. Neurofibromin 1 / metabolism. Neurofibromin 2 / genetics. Neurofibromin 2 / metabolism. Peripheral Nervous System / metabolism. Peripheral Nervous System / pathology. Schwann Cells / metabolism. Schwann Cells / pathology

  • Genetic Alliance. consumer health - Neurofibromatosis.
  • COS Scholar Universe. author profiles.
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18039098.001).
  • [ISSN] 1553-4006
  • [Journal-full-title] Annual review of pathology
  • [ISO-abbreviation] Annu Rev Pathol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01CA113733-01
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1; 0 / Neurofibromin 2
  • [Number-of-references] 148
  •  go-up   go-down


87. Dell'Avanzato R, Carboni F, Palmieri MB, Palmirotta R, Guadagni F, Pippa G, Santeusanio G, Antimi M, Lopez M, Carlini M: Laparoscopic resection of sporadic synchronous gastric and jejunal gastrointestinal stromal tumors: report of a case. Surg Today; 2009;39(4):335-9
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Multicentricity of gastrointestinal stromal tumors (GISTs) has been described only in patients with neurofibromatosis type 1 (NF1) or within the small intestine, and different pathogenetic mechanisms are involved.
  • [MeSH-minor] Aged. Exons. Humans. Immunohistochemistry. Laparoscopy. Male. Mutation. Neoplasms, Multiple Primary / diagnosis. Neoplasms, Multiple Primary / surgery. Proto-Oncogene Proteins c-kit / genetics


88. Rodriguez FJ, Giannini C, Asmann YW, Sharma MK, Perry A, Tibbetts KM, Jenkins RB, Scheithauer BW, Anant S, Jenkins S, Eberhart CG, Sarkaria JN, Gutmann DH: Gene expression profiling of NF-1-associated and sporadic pilocytic astrocytoma identifies aldehyde dehydrogenase 1 family member L1 (ALDH1L1) as an underexpressed candidate biomarker in aggressive subtypes. J Neuropathol Exp Neurol; 2008 Dec;67(12):1194-204
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gene expression profiling of NF-1-associated and sporadic pilocytic astrocytoma identifies aldehyde dehydrogenase 1 family member L1 (ALDH1L1) as an underexpressed candidate biomarker in aggressive subtypes.
  • Pilocytic astrocytomas (PAs) are World Health Organization Grade I gliomas; they most often affect children and young adults and occur in patients with neurofibromatosis type 1 (NF1).

  • Genetic Alliance. consumer health - Pilocytic astrocytoma.
  • MedlinePlus Health Information. consumer health - Brain Tumors.
  • MedlinePlus Health Information. consumer health - Childhood Brain Tumors.
  • COS Scholar Universe. author profiles.
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • [Cites] Biochem Biophys Res Commun. 2002 Sep 13;297(1):148-53 [12220523.001]
  • [Cites] Neurology. 2006 Jan 10;66(1):127-30 [16401863.001]
  • [Cites] J Neurosurg. 2003 Jun;98(6):1170-4 [12816259.001]
  • [Cites] Arch Ophthalmol. 2001 Apr;119(4):516-29 [11296017.001]
  • [Cites] J Neuropathol Exp Neurol. 2001 Sep;60(9):917-20 [11556548.001]
  • [Cites] Clin Cancer Res. 2001 Dec;7(12):4073-9 [11751504.001]
  • [Cites] Cancer Res. 2002 Apr 1;62(7):2085-91 [11929829.001]
  • [Cites] Int J Radiat Oncol Biol Phys. 2002 Mar 15;52(4):996-1001 [11958894.001]
  • [Cites] Cell Growth Differ. 2002 May;13(5):227-36 [12065246.001]
  • [Cites] J Neuropathol Exp Neurol. 2006 Nov;65(11):1049-58 [17086101.001]
  • [Cites] J Comp Neurol. 2007 Jan 10;500(2):368-83 [17111379.001]
  • [Cites] Cancer Res. 2007 Feb 1;67(3):890-900 [17283119.001]
  • [Cites] Neuropediatrics. 2007 Apr;38(2):61-3 [17712732.001]
  • [Cites] J Neurooncol. 2008 Jan;86(2):183-90 [17690840.001]
  • [Cites] J Neurosci. 2008 Jan 2;28(1):264-78 [18171944.001]
  • [Cites] J Neuropathol Exp Neurol. 2008 Mar;67(3):240-9 [18344915.001]
  • [Cites] J Clin Invest. 2008 May;118(5):1739-49 [18398503.001]
  • [Cites] Am J Physiol Gastrointest Liver Physiol. 2008 May;294(5):G1235-44 [18325984.001]
  • [Cites] Oncogene. 2008 Aug 7;27(34):4745-51 [18408760.001]
  • [Cites] Carcinogenesis. 2008 Jul;29(7):1394-9 [18550570.001]
  • [Cites] J Neuropathol Exp Neurol. 2008 Sep;67(9):878-87 [18716556.001]
  • [Cites] Eur Arch Otorhinolaryngol. 2009 Jan;266(1):89-96 [18427826.001]
  • [Cites] Liver Int. 2009 Feb;29(2):187-95 [18694400.001]
  • [Cites] J Clin Oncol. 2003 Aug 1;21(15):2968-73 [12885817.001]
  • [Cites] Ann N Y Acad Sci. 2003 Dec;1010:504-9 [15033780.001]
  • [Cites] Melanoma Res. 2004 Feb;14(1):29-37 [15091191.001]
  • [Cites] Brain Pathol. 2004 Jul;14(3):297-303 [15446585.001]
  • [Cites] J Biol Chem. 1989 Jan 5;264(1):328-33 [2909524.001]
  • [Cites] Cancer Res. 1991 May 1;51(9):2291-5 [1707749.001]
  • [Cites] Cancer. 1993 Aug 15;72(4):1335-42 [8339223.001]
  • [Cites] Hum Pathol. 1995 Sep;26(9):979-86 [7672798.001]
  • [Cites] JAMA. 1997 Jul 2;278(1):51-7 [9207339.001]
  • [Cites] J Neurooncol. 1998 Mar;37(1):9-16 [9525833.001]
  • [Cites] Hum Pathol. 1998 Dec;29(12):1511-6 [9865840.001]
  • [Cites] J Neuropathol Exp Neurol. 1999 Jan;58(1):46-53 [10068313.001]
  • [Cites] J Neuropathol Exp Neurol. 1999 Oct;58(10):1061-8 [10515229.001]
  • [Cites] Oncogene. 2004 Nov 18;23(54):8796-804 [15467732.001]
  • [Cites] Cancer Res. 2005 Jan 1;65(1):76-84 [15665281.001]
  • [Cites] Cancer Res. 2005 Jan 1;65(1):236-45 [15665300.001]
  • [Cites] J Neuropathol Exp Neurol. 2005 Jun;64(6):479-89 [15977639.001]
  • [Cites] Biochem J. 2005 Nov 1;391(Pt 3):503-11 [16014005.001]
  • [Cites] Neurology. 2005 Oct 25;65(8):1335-6 [16247081.001]
  • [Cites] J Biol Chem. 2002 Sep 27;277(39):36216-22 [12147692.001]
  • (PMID = 19018242.001).
  • [ISSN] 0022-3069
  • [Journal-full-title] Journal of neuropathology and experimental neurology
  • [ISO-abbreviation] J. Neuropathol. Exp. Neurol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P50 CA108961; United States / NINDS NIH HHS / NS / T32 NS007494; United States / NINDS NIH HHS / NS / NS007494-05; United States / NINDS NIH HHS / NS / T32 NS07494-04; United States / NINDS NIH HHS / NS / T32 NS007494-05
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Isoenzymes; 0 / Nerve Tissue Proteins; EC 1.2.1.- / aldehyde dehydrogenase 1; EC 1.2.1.3 / Aldehyde Dehydrogenase; EC 1.2.1.36 / Retinal Dehydrogenase; EC 1.5.1.6 / ALDH1L1 protein, human
  • [Other-IDs] NLM/ NIHMS87254; NLM/ PMC2730602
  •  go-up   go-down


89. Denisenko N, Cifuentes-Diaz C, Irinopoulou T, Carnaud M, Benoit E, Niwa-Kawakita M, Chareyre F, Giovannini M, Girault JA, Goutebroze L: Tumor suppressor schwannomin/merlin is critical for the organization of Schwann cell contacts in peripheral nerves. J Neurosci; 2008 Oct 15;28(42):10472-81
PDF icon [Fulltext service] Download fulltext PDF of this article and others, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Schwannomin/merlin is the product of a tumor suppressor gene mutated in neurofibromatosis type 2 (NF2).
  • Although the consequences of NF2 mutations on Schwann cell proliferation are well established, the physiological role of schwannomin in differentiated cells is not known.
  • To unravel this role, we studied peripheral nerves in mice overexpressing in Schwann cells schwannomin with a deletion occurring in NF2 patients (P0-SCH-Delta39-121) or a C-terminal deletion.
  • Similar but more severe alterations were observed in mice with conditional deletion of the Nf2 gene in Schwann cells.

  • KOMP Repository. gene/protein/disease-specific - KOMP Repository (subscription/membership/fee required).
  • Mouse Genome Informatics (MGI). Mouse Genome Informatics (MGI) .
  • [Email] Email this result item
    Email the results to the following email address:   [X] Close
  • (PMID = 18923024.001).
  • [ISSN] 1529-2401
  • [Journal-full-title] The Journal of neuroscience : the official journal of the Society for Neuroscience
  • [ISO-abbreviation] J. Neurosci.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / Tumor Suppressor Proteins
  •  go-up   go-down


90. Dietrich V, Schaller J, Kunze J: [Cutaneous malignant peripheral nerve sheath tumor in neurofibromatosis type 1]. Hautarzt; 2009 Oct;60(10):830-3
PDF icon [Fulltext service] Get downloadable fulltext PDFs of articles closely matching to this article, as many as you want.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Cutaneous malignant peripheral nerve sheath tumor in neurofibromatosis type 1].
  • [Transliterated title] Kutaner maligner peripherer Nervenscheidentumor bei Neurofibromatose Typ 1.
  • Patients with neurofibromatosis have an increased risk of developing malignant tumors in comparison to the general population.
  • [MeSH-major] Neurofibromatosis 1 / diagnosis. Skin Neoplasms / diagnosis. Skin Neoplasms / secondary


91. Coudé FX, Mignot C, Lyonnet S, Munnich A: Early grade repetition and inattention associated with neurofibromatosis type 1. J Atten Disord; 2007 Sep;11(2):101-5
PDF icon [Fulltext service] Get downloadable