Literature DB >> 8379998

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.

G A Rouleau1, P Merel, M Lutchman, M Sanson, J Zucman, C Marineau, K Hoang-Xuan, S Demczuk, C Desmaze, B Plougastel.   

Abstract

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton interface, a previously unknown site of action of tumour suppressor genes in humans.

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Year:  1993        PMID： 8379998     DOI： 10.1038/363515a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


  344 in total

1.  Frequent loss of 1p32 region but no mutation of the p18 tumor suppressor gene in meningiomas.

Authors:  P Leuraud; Y Marie; E Robin; S Huguet; J He; K Mokhtari; P Cornu; K Hoang-Xuan; M Sanson
Journal:  J Neurooncol       Date:  2000-12       Impact factor: 4.130

2.  Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.

Authors:  Heather M McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F Cherukuri; Nancy F Hansen; James C Mullikin; Leslie G Biesecker; Thomas E Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffrey M Vance; Stephan Züchner; Kinga Szigeti; James R Lupski; Ya-Ming Hou; Eric D Green; Anthony Antonellis
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

3.  A chemical biology approach identified PI3K as a potential therapeutic target for neurofibromatosis type 2.

Authors:  Alejandra M Petrilli; Marisa A Fuse; Mathew S Donnan; Marga Bott; Nicklaus A Sparrow; Daniel Tondera; Julia Huffziger; Corina Frenzel; C Siobhan Malany; Christophe J Echeverri; Layton Smith; Cristina Fernández-Valle
Journal:  Am J Transl Res       Date:  2014-10-11       Impact factor: 4.060

Review 4.  Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms.

Authors:  Steven L Carroll
Journal:  Acta Neuropathol       Date:  2011-12-11       Impact factor: 17.088

5.  Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.

Authors:  Jaishri O Blakeley; D Gareth Evans; John Adler; Derald Brackmann; Ruihong Chen; Rosalie E Ferner; C Oliver Hanemann; Gordon Harris; Susan M Huson; Abraham Jacob; Michel Kalamarides; Matthias A Karajannis; Bruce R Korf; Victor-Felix Mautner; Andrea I McClatchey; Harry Miao; Scott R Plotkin; William Slattery; Anat O Stemmer-Rachamimov; D Bradley Welling; Patrick Y Wen; Brigitte Widemann; Kim Hunter-Schaedle; Marco Giovannini
Journal:  Am J Med Genet A       Date:  2011-12-02       Impact factor: 2.802

6.  Loss of NF2/Merlin expression in advanced sporadic colorectal cancer.

Authors:  Tamara Cačev; Gorana Aralica; Božo Lončar; Sanja Kapitanović
Journal:  Cell Oncol (Dordr)       Date:  2013-12-10       Impact factor: 6.730

7.  Expression of cytoskeletal-associated protein tyrosine phosphatase PTPH1 mRNA in human hepatocellular carcinoma.

Authors:  S Ikuta; F Itoh; Y Hinoda; M Toyota; Y Makiguchi; K Imai; A Yachi
Journal:  J Gastroenterol       Date:  1994-12       Impact factor: 7.527

8.  Predictors of the risk of mortality in neurofibromatosis 2.

Authors:  Michael E Baser; J M Friedman; Dana Aeschliman; Harry Joe; Andrew J Wallace; Richard T Ramsden; D Gareth R Evans
Journal:  Am J Hum Genet       Date:  2002-08-22       Impact factor: 11.025

Review 9.  Janus kinases and focal adhesion kinases play in the 4.1 band: a superfamily of band 4.1 domains important for cell structure and signal transduction.

Authors:  J A Girault; G Labesse; J P Mornon; I Callebaut
Journal:  Mol Med       Date:  1998-12       Impact factor: 6.354

10.  High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas.

Authors:  A B Bianchi; S I Mitsunaga; J Q Cheng; W M Klein; S C Jhanwar; B Seizinger; N Kley; A J Klein-Szanto; J R Testa
Journal:  Proc Natl Acad Sci U S A       Date:  1995-11-21       Impact factor: 11.205
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