Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin
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A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.Extracellular Matrix Regulation of Stem Cell BehaviorOn and off membrane dynamics of the endoplasmic reticulum-golgi tethering factor p115 in vivoRole of protein misfolding in DFNA9 hearing loss.Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.Cochlin 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.Murine autoimmune hearing loss mediated by CD4+ T cells specific for inner ear peptides.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Inherited hearing loss: molecular genetics and diagnostic testing.Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.Molecular cloning of the Coch gene of guinea pig inner ear and its expression analysis in cultured fibrocytes of the spiral ligament.The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens.Identification of a functional domain within the p115 tethering factor that is required for Golgi ribbon assembly and membrane trafficking.Inflammatory cytokines, goblet cell hyperplasia and altered lung mechanics in Lgl1+/- miceDoes Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
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P2860
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin
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2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutations in COCH that result ...... t matrix deposition of cochlin
@ast
Mutations in COCH that result ...... t matrix deposition of cochlin
@en
Mutations in COCH that result ...... t matrix deposition of cochlin
@nl
type
label
Mutations in COCH that result ...... t matrix deposition of cochlin
@ast
Mutations in COCH that result ...... t matrix deposition of cochlin
@en
Mutations in COCH that result ...... t matrix deposition of cochlin
@nl
prefLabel
Mutations in COCH that result ...... t matrix deposition of cochlin
@ast
Mutations in COCH that result ...... t matrix deposition of cochlin
@en
Mutations in COCH that result ...... t matrix deposition of cochlin
@nl
P2093
P3181
P1433
P1476
Mutations in COCH that result ...... t matrix deposition of cochlin
@en
P2093
Barrett Hicks
Elizabeth Sztul
Richard Mayne
Robert Grabski
Rupert Timpl
Takako Sasaki
Tomasz Szul
P2888
P304
P3181
P356
10.1007/S00439-003-0992-7
P407
P577
2003-10-01T00:00:00Z
P5875
P6179
1016193839