A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. (Q42820343)

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27 December 2019

title

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression (English)

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27 December 2019

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7

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27 December 2019

Daniel González-Nieto

2

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27 December 2019

Nieves Salvador

6

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27 December 2019

author name string

Angeles Mencía

1

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27 December 2019

Silvia Modamio-Høybjør

3

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27 December 2019

Ainhoa Etxeberría

4

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27 December 2019

Gracia Aránguez

5

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27 December 2019

Alvaro Villarroel

8

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27 December 2019

Felipe Moreno

9

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27 December 2019

Luis Barrio

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27 December 2019

Miguel Angel Moreno-Pelayo

11

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27 December 2019

publication date

21 November 2007

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27 December 2019

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27 December 2019

volume

123

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27 December 2019

issue

1

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27 December 2019

page(s)

41-53

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https://scigraph.springernature.com/pub.10.1007/s00439-007-0447-7

27 December 2019

exact match

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KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

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Identification of a trafficking determinant localized to the Kv1 potassium channel pore

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Quality control in the endoplasmic reticulum

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Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

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

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

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A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly

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

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Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias

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Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.

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Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.

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Non-syndromic autosomal-dominant deafness

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Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.

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Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytes

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Three mechanisms underlie KCNQ2/3 heteromeric potassium M-channel potentiation.

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A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

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Neuronal KCNQ potassium channels: physiology and role in disease.

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

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Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

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

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12 December 2020

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

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Heteromultimeric CLC chloride channels with novel properties

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

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12 December 2020

Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness

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12 December 2020

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

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12 December 2020

Correlation of transiently evoked otoacoustic emission measures to auditory thresholds.

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Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

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ER transport signals and trafficking of potassium channels and receptors

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

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KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome

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Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

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

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A structural requirement for processing the cardiac K+ channel KCNQ1.

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Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss.

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Structural insight into KCNQ (Kv7) channel assembly and channelopathy

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Resting potential and submembrane calcium concentration of inner hair cells in the isolated mouse cochlea are set by KCNQ-type potassium channels.

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12 December 2020