Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
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Connexin46 mutations in autosomal dominant congenital cataract.A 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.Autosomal recessive nonsyndromic deafness genes: a reviewThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsMice with conditional deletion of Cx26 exhibit no vestibular phenotype despite secondary loss of Cx30 in the vestibular end organsUtilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi ArabiaThe unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH geneMutations in GJB6 cause hidrotic ectodermal dysplasiaA large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?Molecular diagnostics in ChinaGap junctions and cochlear homeostasisPurinergic control of intercellular communication between Hensen's cells of the guinea-pig cochleaTargeted disruption of otog results in deafness and severe imbalanceFinding new genes for non-syndromic hearing loss through an in silico prioritization studyLife sciences and biotechnology in China.Genetics of Tinnitus: Still in its Infancy.Noise-Induced Loss of Hair Cells and Cochlear Synaptopathy Are Mediated by the Activation of AMPK.Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous RegionA study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.Genetics of hearing loss: focus on DFNA2.Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness.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.Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.High throughput assay of diffusion through Cx43 gap junction channels with a microfluidic chipA unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.At the speed of sound: gene discovery in the auditory systemPannexins are new molecular candidates for assembling gap junctions in the cochlea.Beginning of a molecular era in hearing and deafness.X-linked Charcot-Marie-Tooth disease and connexin32.Science, medicine, and the future: New interventions in hearing impairment.Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.Gap junctions and blood-tissue barriersNon-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.
P2860
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P2860
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
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 gene encoding ...... al dominant hearing impairment
@ast
Mutations in the gene encoding ...... al dominant hearing impairment
@en
Mutations in the gene encoding ...... al dominant hearing impairment
@nl
type
label
Mutations in the gene encoding ...... al dominant hearing impairment
@ast
Mutations in the gene encoding ...... al dominant hearing impairment
@en
Mutations in the gene encoding ...... al dominant hearing impairment
@nl
prefLabel
Mutations in the gene encoding ...... al dominant hearing impairment
@ast
Mutations in the gene encoding ...... al dominant hearing impairment
@en
Mutations in the gene encoding ...... al dominant hearing impairment
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in the gene encoding ...... al dominant hearing impairment
@en
P2093
P2860
P2888
P3181
P356
10.1038/3845
P407
P577
1998-12-01T00:00:00Z