Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
about
Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channelsDeletion of the Ca2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing lossA 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.In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.Tamoxifen inhibits BK channels in chick cochlea without alterations in voltage-dependent activationCellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.In vivo analysis of a gain-of-function mutation in the Drosophila eag-encoded K+ channel.Non-syndromic autosomal-dominant deafness.Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Mechanisms of Calmodulin Regulation of Different Isoforms of Kv7.4 K+ ChannelsImpaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing lossKCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing lossAudioprofile-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.Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.
P2860
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P2860
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
description
2000 nî lūn-bûn
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2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Mutations in the KCNQ4 K+ chan ...... er in the channel pore region.
@ast
Mutations in the KCNQ4 K+ chan ...... er in the channel pore region.
@en
type
label
Mutations in the KCNQ4 K+ chan ...... er in the channel pore region.
@ast
Mutations in the KCNQ4 K+ chan ...... er in the channel pore region.
@en
prefLabel
Mutations in the KCNQ4 K+ chan ...... er in the channel pore region.
@ast
Mutations in the KCNQ4 K+ chan ...... er in the channel pore region.
@en
P2093
P2860
P1476
Mutations in the KCNQ4 K+ chan ...... ter in the channel pore region
@en
P2093
C W Cremers
P J Coucke
P Van Hauwe
R J Ensink
P2860
P304
P356
10.1002/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5
P50
P577
2000-07-01T00:00:00Z