Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9 - Wikidata - awgldk - TriplyDB

Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9

Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9

http://www.wikidata.org/entity/Q28259774

about

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.NMR structure of the LCCL domain and implications for DFNA9 deafness disorder Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9 Genetics of vestibular disorders: pathophysiological insights A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds A new FACIT of the collagen family: COL21A1 Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease Cochlin produced by follicular dendritic cells promotes antibacterial innate immunity WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteins Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme Sexual stage adhesion proteins form multi-protein complexes in the malaria parasite Plasmodium falciparum 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.Innate immune recognition of molds and homology to the inner ear protein, cochlin, in patients with autoimmune inner ear disease Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences.Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient mice Molecular screens for inner ear genes.Molecular markers for cell types of the inner ear and candidate genes for hearing disorders Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.Beginning of a molecular era in hearing and deafness.Role of protein misfolding in DFNA9 hearing loss.COCH transgene expression in cultured human trabecular meshwork cells and its effect on outflow facility in monkey organ cultured anterior segments.The LCCL module.Gene expression profiling elucidates a specific role for RARgamma in the retinoic acid-induced differentiation of F9 teratocarcinoma stem cells Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.Non-syndromic autosomal-dominant deafness.Application of physiological genomics to the study of hearing disorders.Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss Cochlin in the eye: functional implications.Three-gene signature predicts disease progression of non-muscle invasive bladder cancer.Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.Cochlin expression in anterior segment organ culture models after TGFbeta2 treatment.A genetic approach to understanding inner ear function.Potential for transcriptional upregulation of cochlin in glaucomatous trabecular meshwork: a combinatorial bioinformatic and biochemical analytical approach.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.Mapping QTL for an adaptive trait: the length of caudal fin in Lates calcarifer.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.Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

P2860

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P2860

Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9

http://www.wikidata.org/entity/Q28259774

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1997 nî lūn-bûn

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1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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A B Skvorak

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C C Morton

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F R Bieber

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J F Battey

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10.1006/GENO.1997.5067

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