A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. - Wikidata - wikimedia - TriplyDB

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

http://www.wikidata.org/entity/Q34138254

about

KCNQ potassium channels in sensory system and neural circuits Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.Genetics of hearing loss: focus on DFNA2.Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss The responsible genes in Japanese deafness patients and clinical application using Invader assay.KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss Genetics of hearing loss: where are we standing now?Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.Restoration of ion channel function in deafness-causing KCNQ4 mutants by synthetic channel openers.Degeneration of sensory outer hair cells following pharmacological blockade of cochlear KCNQ channels in the adult guinea pig.Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

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A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

http://www.wikidata.org/entity/Q34138254

description

2002 nî lūn-bûn

@nan

2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հուլիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

A mutational hot spot in the K ...... l dominant hearing impairment.

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A mutational hot spot in the K ...... l dominant hearing impairment.

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A mutational hot spot in the K ...... l dominant hearing impairment.

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type

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A mutational hot spot in the K ...... l dominant hearing impairment.

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A mutational hot spot in the K ...... l dominant hearing impairment.

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A mutational hot spot in the K ...... l dominant hearing impairment.

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A mutational hot spot in the K ...... l dominant hearing impairment.

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A mutational hot spot in the K ...... l dominant hearing impairment.

@en

A mutational hot spot in the K ...... l dominant hearing impairment.

@nl

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A mutational hot spot in the K ...... l dominant hearing impairment.

@en

P2093

Cor W R J Cremers

http://www.w3.org/2001/XMLSchema#string

Els M R De Leenheer

http://www.w3.org/2001/XMLSchema#string

Erik Fransen

http://www.w3.org/2001/XMLSchema#string

Guy Van Camp

http://www.w3.org/2001/XMLSchema#string

Jiro Akita

http://www.w3.org/2001/XMLSchema#string

Patrick L M Huygen

http://www.w3.org/2001/XMLSchema#string

Paul J Coucke

http://www.w3.org/2001/XMLSchema#string

Satoko Abe

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Shin-Ichi Usami

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P2860

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

A fast and scalable radiation hybrid map construction and integration strategy

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2.

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

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15-19

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10.1002/HUMU.10096

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1

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20

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2002-07-01T00:00:00Z

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12112653

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