Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
about
TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteinsEssential role of retinoblastoma protein in mammalian hair cell development and hearing.TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner earAutosomal recessive nonsyndromic deafness genes: a reviewMechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.An ENU-induced mutation of miR-96 associated with progressive hearing loss in miceFocusing on the genetics of hearing: you ain't heard nothin' yet.Is TMC1 the Hair Cell Mechanotransducer Channel?Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing lossThe effects of Tmc1 Beethoven mutation on mechanotransducer channel function in cochlear hair cellsMechanically Activated Ion ChannelsNovel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese familyConductance and block of hair-cell mechanotransducer channels in transmembrane channel-like protein mutantsA mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIATmc gene therapy restores auditory function in deaf mice.The physiology of mechanoelectrical transduction channels in hearing.TMC function in hair cell transductionDevelopmental changes in the cochlear hair cell mechanotransducer channel and their regulation by transmembrane channel-like proteins.Genome-wide linkage analyses identify Hfhl1 and Hfhl3 with frequency-specific effects on the hearing spectrum of NIH Swiss miceNovel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.Towards a molecular understanding of Drosophila hearingMultiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.Transmembrane channel-like (tmc) gene regulates Drosophila larval locomotion.The expanding role of mouse genetics for understanding human biology and diseaseThe transmembrane channel-like protein family and human papillomaviruses: Insights into epidermodysplasia verruciformis and progression to squamous cell carcinoma.A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese familytmc-1 encodes a sodium-sensitive channel required for salt chemosensation in C. elegans.Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function.A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.Characterization of transcriptomes of cochlear inner and outer hair cells.Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2Mutations of TMC1 cause deafness by disrupting mechanoelectrical transductionTopology of transmembrane channel-like gene 1 proteinMutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.Non-syndromic autosomal-dominant deafness.Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.Transient receptor potential melastatin 1: a hair cell transduction channel candidate.Perception of sound and gravity by TMC1 and TMC2
P2860
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P2860
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
description
2002 nî lūn-bûn
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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
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2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
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2002年學術文章
@yue
name
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@ast
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@en
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@nl
type
label
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@ast
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@en
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@nl
prefLabel
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@ast
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@en
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@nl
P2093
P50
P356
P1433
P1476
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
@en
P2093
Alexandra Erven
Andrew J Griffith
Corné J Kros
Edward R Wilcox
Helmut Fuchs
Karen P Steel
Kiyoto Kurima
Thomas B Friedman
Walter Marcotti
P2888
P304
P356
10.1038/NG848
P407
P577
2002-02-19T00:00:00Z