Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
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A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) miceThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsA large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.Function and expression pattern of nonsyndromic deafness genesAuditory nerve is affected in one of two different point mutations of the neurofilament light gene.Accumulation of endogenous LITAF in aggresomesPathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell deathProperties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.Human connexin disorders of the skin.Inherited connexin mutations associated with hearing loss.Non-syndromic autosomal-dominant deafness.Connexin gene pathology.The genetic bases for non-syndromic hearing loss among ChineseDigenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Do cell junction protein mutations cause an airway phenotype in mice or humans?Key functions for gap junctions in skin and hearing.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Erythrokeratodermia variabilis et progressiva.Differential effects of Th1, monocyte/macrophage and Th2 cytokine mixtures on early gene expression for glial and neural-related molecules in central nervous system mixed glial cell cultures: neurotrophins, growth factors and structural proteinsTrafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.EKV mutant connexin 31 associated cell death is mediated by ER stress.Cx31 is assembled and trafficked to cell surface by ER-Golgi pathway and degraded by proteasomal or lysosomal pathways.Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations.GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.Disorders of Keratinization
P2860
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P2860
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
description
2001 nî lūn-bûn
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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
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@ast
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@en
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@nl
type
label
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@ast
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@en
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@nl
prefLabel
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@ast
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@en
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@nl
P2093
P50
P356
P1476
Connexin 31 (GJB3) is expresse ...... ropathy and hearing impairment
@en
P2093
J A Martínez-Matos
K B Avraham
O Ben-David
P Gasparini
P304
P356
10.1093/HMG/10.9.947
P407
P577
2001-04-01T00:00:00Z