Literature DB >> 7759081

Eleven novel mutations in the NF2 tumour suppressor gene.

D Bourn1, G Evans, S Mason, S Tekes, L Trueman, T Strachan.   

Abstract

Eleven novel mutations were identified in the NF2 tumour suppressor gene in a panel of British NF2 patients. Screening was performed using a combination of heteroduplex and single-strand conformation polymorphism analysis on polymerase chain reaction amplified material.

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Year:  1995        PMID： 7759081     DOI： 10.1007/BF00223872

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  24 in total

1.  Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

Authors:  D Bourn; S A Carter; S Mason; D Gareth; R Evans; T Strachan
Journal:  Hum Mol Genet       Date:  1994-05       Impact factor: 6.150

2.  A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

Authors:  D Bourn; S A Carter; D G Evans; J Goodship; H Coakham; T Strachan
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  Exon scanning for mutation of the NF2 gene in schwannomas.

Authors:  L B Jacoby; M MacCollin; D N Louis; T Mohney; M P Rubio; K Pulaski; J A Trofatter; N Kley; B Seizinger; V Ramesh
Journal:  Hum Mol Genet       Date:  1994-03       Impact factor: 6.150

4.  Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas.

Authors:  R H Lekanne Deprez; A B Bianchi; N A Groen; B R Seizinger; A Hagemeijer; E van Drunen; D Bootsma; J W Koper; C J Avezaat; N Kley
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

5.  Mutational analysis of patients with neurofibromatosis 2.

Authors:  M MacCollin; V Ramesh; L B Jacoby; D N Louis; M P Rubio; K Pulaski; J A Trofatter; M P Short; C Bove; R Eldridge
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

6.  A clinical study of type 2 neurofibromatosis.

Authors:  D G Evans; S M Huson; D Donnai; W Neary; V Blair; V Newton; R Harris
Journal:  Q J Med       Date:  1992-08

7.  Moesin: a member of the protein 4.1-talin-ezrin family of proteins.

Authors:  W T Lankes; H Furthmayr
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

8.  cDNA cloning and sequencing of the protein-tyrosine kinase substrate, ezrin, reveals homology to band 4.1.

Authors:  K L Gould; A Bretscher; F S Esch; T Hunter
Journal:  EMBO J       Date:  1989-12-20       Impact factor: 11.598

9.  A gene family consisting of ezrin, radixin and moesin. Its specific localization at actin filament/plasma membrane association sites.

Authors:  N Sato; N Funayama; A Nagafuchi; S Yonemura; S Tsukita; S Tsukita
Journal:  J Cell Sci       Date:  1992-09       Impact factor: 5.285

10.  Radixin is a novel member of the band 4.1 family.

Authors:  N Funayama; A Nagafuchi; N Sato; S Tsukita; S Tsukita
Journal:  J Cell Biol       Date:  1991-11       Impact factor: 10.539
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  5 in total

1.  Binding of the merlin-I product of the neurofibromatosis type 2 tumour suppressor gene to a novel site in beta-fodrin is regulated by association between merlin domains.

Authors:  G W Neill; M R Crompton
Journal:  Biochem J       Date:  2001-09-15       Impact factor: 3.857

2.  The neurofibromatosis 2 protein, merlin, regulates glial cell growth in an ErbB2- and Src-dependent manner.

Authors:  S Sean Houshmandi; Ryan J Emnett; Marco Giovannini; David H Gutmann
Journal:  Mol Cell Biol       Date:  2008-12-22       Impact factor: 4.272

3.  Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Authors:  D G Evans; L Trueman; A Wallace; S Collins; T Strachan
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

4.  Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity.

Authors:  Minja Laulajainen; Maria Melikova; Taru Muranen; Olli Carpén; Mikaela Grönholm
Journal:  J Cell Mol Med       Date:  2012-09       Impact factor: 5.310

5.  Nf2/Merlin controls spinal cord neural progenitor function in a Rac1/ErbB2-dependent manner.

Authors:  Cynthia Garcia; David H Gutmann
Journal:  PLoS One       Date:  2014-05-09       Impact factor: 3.240
  5 in total

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