Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
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Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null miceMutations in the human connexin gene GJB3 cause erythrokeratodermia variabilisConnexin46 mutations in autosomal dominant congenital cataract.Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1qA missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) miceDFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.Life cycle of connexins in health and diseaseThe effects of connexin phosphorylation on gap junctional communicationAutosomal recessive nonsyndromic deafness genes: a reviewIdentification and characterization of pannexin expression in the mammalian cochleaMultivariate search for differentially expressed gene combinationsMolecular epidemiology of DFNB1 deafness in FranceThe Genetics of Deafness in Domestic AnimalsThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsGap junctionsAberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing lossCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.Asymmetric Configurations and N-terminal Rearrangements in Connexin26 Gap Junction ChannelsThe unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.Mutations in GJB6 cause hidrotic ectodermal dysplasiaFrequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsToward an understanding of cochlear homeostasis: the impact of location and the role of OCP1 and OCP2Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndromeA large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewThe autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA geneGap junctions and cochlear homeostasisAutosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA geneConnexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochleaMutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairmentConnexin 26 mutations in autosomal recessive deafness disorders: a reviewPurinergic control of intercellular communication between Hensen's cells of the guinea-pig cochleaAssembly of the cochlear gap junction macromolecular complex requires connexin 26.Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)Intracellular Delivery of Short Interfering RNA in Rat Organ of Corti Using a Cell-penetrating Peptide PepFect6Targeted disruption of otog results in deafness and severe imbalanceFinding new genes for non-syndromic hearing loss through an in silico prioritization studyHypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2) Deficiency
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P2860
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
description
1997 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մայիսին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Nature
@fr
artículu científicu espublizáu en 1997
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scientific journal article
@en
vedecký článok (publikovaný 1997/05/01)
@sk
vědecký článek publikovaný v roce 1997
@cs
wetenschappelijk artikel (gepubliceerd op 1997/05/01)
@nl
наукова стаття, опублікована в травні 1997
@uk
مقالة علمية (نشرت في مايو 1997)
@ar
name
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@ast
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@en
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@nl
type
label
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@ast
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@en
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@nl
prefLabel
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@ast
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@en
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@nl
P2093
P3181
P356
P1433
P1476
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
@en
P2093
D. P. Kelsell
H. P. Stevens
I. M. Leigh
J. N. Liang
N. J. Lench
R. F. Mueller
P2888
P3181
P356
10.1038/387080A0
P407
P577
1997-05-01T00:00:00Z
P5875
P6179
1017615074