Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9
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Distribution and evolution of von Willebrand/integrin A domains: widely dispersed domains with roles in cell adhesion and elsewhereSubcellular 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 diseaseCochlin produced by follicular dendritic cells promotes antibacterial innate immunityDisease gene candidates revealed by expression profiling of retinal ganglion cell developmentDifferent 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.Cochlin expression in vestibular endorgans obtained from patients with Meniere's disease.Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunctionCochlin and glaucoma: a mini-review.Role of protein misfolding in DFNA9 hearing loss.Prioritization of driver mutations in pancreatic cancer using cancer-specific high-throughput annotation of somatic mutations (CHASM).CRISPLD2: a novel NSCLP candidate gene.Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.The role of the posterior ciliary body in the biosynthesis of vitreous humour.Non-syndromic autosomal-dominant deafness.Gene Expression by Mouse Inner Ear Hair Cells during Development.Cochlin in the eye: functional implications.Proteomic analysis of the organ of corti using nanoscale liquid chromatography coupled with tandem mass spectrometry.Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea.Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.Murine autoimmune hearing loss mediated by CD4+ T cells specific for inner ear peptides.Immunohistochemical techniques for the human inner ear.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.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.The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens.A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.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.The Role of Autoimmunity in the Pathogenesis of Sudden Sensorineural Hearing Loss.Genes important for otoneurological diagnostic purposes - current status and future prospects
P2860
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P2860
Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին 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
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@ast
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@en
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@nl
type
label
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@ast
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@en
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@nl
prefLabel
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@ast
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@en
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@nl
P2093
P356
P1476
Inner ear localization of mRNA ...... and vestibular disorder, DFNA9
@en
P2093
B L Resendes
C C Morton
N G Robertson
P304
P356
10.1093/HMG/10.22.2493
P407
P577
2001-10-15T00:00:00Z