Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
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Connexin46 mutations in autosomal dominant congenital cataract.Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilisDFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Recent advances in understanding ichthyosis pathogenesisThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsStructural organization of intercellular channels II. Amino terminal domain of the connexins: sequence, functional roles, and structureMutations in GJB6 cause hidrotic ectodermal dysplasiaDivergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitroA large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?A fully atomistic model of the Cx32 connexonConnexin31.1 (Gjb5) deficiency blocks trophoblast stem cell differentiation and delays placental developmentComprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Beginning of a molecular era in hearing and deafness.X-linked Charcot-Marie-Tooth disease and connexin32.Gap junctions and blood-tissue barriersDifferentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndromeEctodermal dysplasias: a new clinical-genetic classificationConnexin mutations in skin disease and hearing loss.Pathogenic 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.Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.Non-syndromic autosomal-dominant deafness.Sharing signals: connecting lung epithelial cells with gap junction channels.Connexin gene pathology.Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Erythrokeratodermas: a classification in a state of flux?Molecular cloning and characterization of amh and dax1 genes and their expression during sex inversion in rice-field eel Monopterus albus.Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannelsAnalysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.Mutational screening of Indian families with hereditary congenital cataractConnexins and apoptotic transformationConnexin26 deafness associated mutations show altered permeability to large cationic moleculesZinc modulation of hemi-gap-junction channel currents in retinal horizontal cellsConnexin43 carboxyl-terminal peptides reduce scar progenitor and promote regenerative healing following skin wounding.Digenic 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.
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P2860
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@ast
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@en
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@en-gb
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@nl
type
label
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@ast
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@en
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@en-gb
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@nl
prefLabel
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@ast
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@en
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@en-gb
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
@en
P2093
E H Epstein
J G Compton
J J DiGiovanna
R A Bailey
P2860
P2888
P3181
P356
10.1038/3840
P407
P577
1998-12-01T00:00:00Z
P6179
1048391612