Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families
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NMR structure of the LCCL domain and implications for DFNA9 deafness disorderSubcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's diseaseHearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.The inner ear and the neurologistA targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunctionExpression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient miceCochlin and glaucoma: a mini-review.Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.Non-syndromic autosomal-dominant deafness.Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.The genetic bases for non-syndromic hearing loss among ChineseCochlin in the eye: functional implications.Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.Cochlin expression in anterior segment organ culture models after TGFbeta2 treatment.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Distinct vestibular phenotypes in DFNA9 families with COCH variants.Detailed hearing and vestibular profiles in the patients with COCH mutations.Phenotype description of a novel DFNA9/COCH mutation, I109T.Absence of COCH mutations in patients with Meniere disease.Genes important for otoneurological diagnostic purposes - current status and future prospects
P2860
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P2860
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families
description
2001 nî lūn-bûn
@nan
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Identification of a novel COCH ...... res observed in DFNA9 families
@ast
Identification of a novel COCH ...... res observed in DFNA9 families
@en
Identification of a novel COCH ...... res observed in DFNA9 families
@nl
type
label
Identification of a novel COCH ...... res observed in DFNA9 families
@ast
Identification of a novel COCH ...... res observed in DFNA9 families
@en
Identification of a novel COCH ...... res observed in DFNA9 families
@nl
prefLabel
Identification of a novel COCH ...... res observed in DFNA9 families
@ast
Identification of a novel COCH ...... res observed in DFNA9 families
@en
Identification of a novel COCH ...... res observed in DFNA9 families
@nl
P2093
P356
P1433
P1476
Identification of a novel COCH ...... res observed in DFNA9 families
@en
P2093
P356
10.1002/HUMU.37
P407
P577
2001-04-01T00:00:00Z