Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness
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Autosomal recessive nonsyndromic deafness genes: a reviewOTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy alleleOtoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cellsA novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.Otoferlin deficiency in zebrafish results in defects in balance and hearing: rescue of the balance and hearing phenotype with full-length and truncated forms of mouse otoferlin.Evidence for genotype-phenotype correlation for OTOF mutations.A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin.Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathyA missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9Calcium regulates molecular interactions of otoferlin with soluble NSF attachment protein receptor (SNARE) proteins required for hair cell exocytosis.Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion.Transfer characteristics of the hair cell's afferent synapseCalcium cooperativity of exocytosis as a measure of Ca²+ channel domain overlap.Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.Inherited hearing loss: molecular genetics and diagnostic testing.Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.[Diagnosis and therapy of auditory synaptopathy/neuropathy].PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
P2860
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P2860
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness
description
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Juli 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: July 2002)
@en
vedecký článok (publikovaný 2002-07)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd in 2002-07)
@nl
наукова стаття, опублікована в липні 2002
@uk
مقالة علمية (نشرت في يوليو 2002)
@ar
name
Substitutions in the conserved ...... c autosomal recessive deafness
@ast
Substitutions in the conserved ...... c autosomal recessive deafness
@en
Substitutions in the conserved ...... c autosomal recessive deafness
@nl
type
label
Substitutions in the conserved ...... c autosomal recessive deafness
@ast
Substitutions in the conserved ...... c autosomal recessive deafness
@en
Substitutions in the conserved ...... c autosomal recessive deafness
@nl
prefLabel
Substitutions in the conserved ...... c autosomal recessive deafness
@ast
Substitutions in the conserved ...... c autosomal recessive deafness
@en
Substitutions in the conserved ...... c autosomal recessive deafness
@nl
P2093
P3181
P356
P1476
Substitutions in the conserved ...... c autosomal recessive deafness
@en
P2093
F Mirghomizadeh
H P Zenner
P304
P3181
P356
10.1006/NBDI.2002.0488
P407
P577
2002-07-01T00:00:00Z