Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9 - Wikidata - awgldk - TriplyDB

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

http://www.wikidata.org/entity/Q24676750

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Spatio-temporal expression of a novel neuron-derived neurotrophic factor (NDNF) in mouse brains during development A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.Aqueous outflow - A continuum from trabecular meshwork to episcleral veins Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family Cochlin produced by follicular dendritic cells promotes antibacterial innate immunity Innate immune recognition of molds and homology to the inner ear protein, cochlin, in patients with autoimmune inner ear disease Cochlin and glaucoma: a mini-review.Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.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.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 normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.Misfolded proteins traffic from the endoplasmic reticulum (ER) due to ER export signals.Cochlin in the eye: functional implications.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.Cochlin expression in anterior segment organ culture models after TGFbeta2 treatment.Potential for transcriptional upregulation of cochlin in glaucomatous trabecular meshwork: a combinatorial bioinformatic and biochemical analytical approach.Is primary open-angle glaucoma part of a generalized sensory neurodegeneration? A review of the evidence.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.CD39 reveals novel insights into the role of transmembrane domains in protein processing, apical targeting and activity.Molecular cloning of the Coch gene of guinea pig inner ear and its expression analysis in cultured fibrocytes of the spiral ligament.Focus on molecules: cochlin.Domain shuffling and the evolution of vertebrates.Inflammatory cytokines, goblet cell hyperplasia and altered lung mechanics in Lgl1+/- mice Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review.LGL1 modulates proliferation, apoptosis, and migration of human fetal lung fibroblasts.Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion.Cochlear Proteins Associated with Noise-induced Hearing Loss: An Update

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P2860

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

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C C Morton

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Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families

PSLAP, a protein with multiple adhesive motifs, is expressed in Plasmodium falciparum gametocytes

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

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

Autosomal dominant sensorineural hearing loss. Further temporal bone findings

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