(Q36415420)

14 August 2017

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title

The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene (English)

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neurofibromatosis type II

14 August 2017

main subject

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Michael E Baser

1

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14 August 2017

Contributors to the International NF2 Mutation Database

series ordinal

2

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14 August 2017

publication date

1 April 2006

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14 August 2017

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14 August 2017

volume

27

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14 August 2017

issue

4

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14 August 2017

page(s)

297-306

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p53 gain-of-function: tumor biology and bioinformatics come together

14 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

The NF2 tumor suppressor Merlin and the ERM proteins interact with N-WASP and regulate its actin polymerization function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20317

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Predictors of the risk of mortality in neurofibromatosis 2

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Genotype-phenotype correlations for cataracts in neurofibromatosis 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

ERM proteins and merlin: integrators at the cell cortex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Instability of repetitive DNA sequences: the role of replication in multiple mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

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https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Interdomain interaction of merlin isoforms and its influence on intermolecular binding to NHE-RF

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Strong conservation of the human NF2 locus based on sequence comparison in five species.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Distribution of spontaneous CpG-associated G:C --> A:T mutations in the lacZ gene of Muta mice: effects of CpG methylation, the sequence context of CpG sites, and severity of mutations on the activity of the lacZ gene product

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Exon scanning for mutation of the NF2 gene in schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Mosaicism in sporadic neurofibromatosis 2 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Two genetic hits (more or less) to cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Structural analysis of Drosophila merlin reveals functional domains important for growth control and subcellular localization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Genetic and epigenetic alteration of theNF2gene in sporadic meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

The neuroimaging and clinical spectrum of neurofibromatosis 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Predominant occurrence of somatic mutations of theNF2 gene in meningiomas and schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Molecular pathogenesis of meningiomas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Merlin and the ERM proteins in Schwann cells, neurons and growth cones

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

DNA end joining becomes less efficient and more error-prone during cellular senescence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Interdomain binding mediates tumor growth suppression by the NF2 gene product

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Structural basis for neurofibromatosis type 2. Crystal structure of the merlin FERM domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

To slip or skip, visualizing frameshift mutation dynamics for error-prone DNA polymerases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

The neurofibromatosis type 2 gene is inactivated in schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

The NF2 tumor suppressor gene product, merlin, inhibits cell proliferation and cell cycle progression by repressing cyclin D1 expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

NF2 gene in neurofibromatosis type 2 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20317

7 January 2021

Identifiers

DOI

10.1002/HUMU.20317

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14 August 2017

1 reference