A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
about
KCNQ potassium channels in sensory system and neural circuitsDistinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channelsA 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 lossAmino 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 lossThe responsible genes in Japanese deafness patients and clinical application using Invader assay.KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing lossGenetics 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.
P2860
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P2860
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
description
2002 nî lūn-bûn
@nan
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A mutational hot spot in the K ...... l dominant hearing impairment.
@ast
A mutational hot spot in the K ...... l dominant hearing impairment.
@en
A mutational hot spot in the K ...... l dominant hearing impairment.
@nl
type
label
A mutational hot spot in the K ...... l dominant hearing impairment.
@ast
A mutational hot spot in the K ...... l dominant hearing impairment.
@en
A mutational hot spot in the K ...... l dominant hearing impairment.
@nl
prefLabel
A mutational hot spot in the K ...... l dominant hearing impairment.
@ast
A mutational hot spot in the K ...... l dominant hearing impairment.
@en
A mutational hot spot in the K ...... l dominant hearing impairment.
@nl
P2093
P2860
P356
P1433
P1476
A mutational hot spot in the K ...... l dominant hearing impairment.
@en
P2093
Cor W R J Cremers
Els M R De Leenheer
Erik Fransen
Guy Van Camp
Jiro Akita
Patrick L M Huygen
Paul J Coucke
Satoko Abe
Shin-Ichi Usami
P2860
P356
10.1002/HUMU.10096
P577
2002-07-01T00:00:00Z