Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
about
Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null miceA 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 mutationsCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.The 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 dysplasiaGap junctions and cochlear homeostasisConnexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochleaPurinergic control of intercellular communication between Hensen's cells of the guinea-pig cochleaThe human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.Finding new genes for non-syndromic hearing loss through an in silico prioritization studyA study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.Connexons and pannexons: newcomers in neurophysiologyGenetics of hearing loss: focus on DFNA2.Calcium signaling in the cochlea - Molecular mechanisms and physiopathological implications.BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis.Function and expression pattern of nonsyndromic deafness genesComprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Gap-junction channels dysfunction in deafness and hearing loss.At the speed of sound: gene discovery in the auditory systemMouse otocyst transuterine gene transfer restores hearing in mice with connexin 30 deletion-associated hearing loss.Hereditary non-syndromic sensorineural hearing loss: transforming silence to soundPannexins are new molecular candidates for assembling gap junctions in the cochlea.Science, medicine, and the future: New interventions in hearing impairment.Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.Ectodermal dysplasias: a new clinical-genetic classificationTDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data.Connexin mutations in skin disease and hearing loss.Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.Non-syndromic autosomal-dominant deafness.Application of physiological genomics to the study of hearing disorders.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyAbsence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.Preferentially regulated expression of connexin 43 in the developing spiral ganglion neurons and afferent terminals in post-natal rat cochlea
P2860
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P2860
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@ast
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@en
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@nl
type
label
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@ast
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@en
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@nl
prefLabel
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@ast
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@en
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@nl
P2093
P50
P3181
P356
P1433
P1476
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
@en
P2093
C A Wagner
F Bernardi
L D'Ambrosio
M D Monica
P Gasparini
S Melchionda
P2888
P3181
P356
10.1038/12612
P407
P577
1999-09-01T00:00:00Z
P6179
1032757223