Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss
about
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.Connexinopathies: a structural and functional glimpseSyndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels.Connexins and pannexins in the integumentary system: the skin and appendages.Alkaline pH sensor molecules.Human diseases associated with connexin mutations.Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.Altered CO2 sensitivity of connexin26 mutant hemichannels in vitroStructural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.Editorial: Single membrane channels formed by connexins or pannexins: focus on the nervous system.Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.Pannexin-1 expression in developing mouse nervous system: new evidence for expression in sensory ganglia.Modulation of Connexin-36 Gap Junction Channels by Intracellular pH and Magnesium Ions.Connexin 26 Expression in Mammalian CardiomyocytesContribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort
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P2860
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss
description
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2014 թուականին հրատարակուած գիտական յօդուած
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2014 թվականին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@ast
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@en
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@nl
type
label
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@ast
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@en
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@nl
prefLabel
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@ast
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@en
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@nl
P2860
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P356
P1476
Aberrant Cx26 hemichannels and ...... ts into syndromic hearing loss
@en
P2093
Helmuth A. Sanchez
Vytas K. Verselis
P2860
P3181
P356
10.3389/FNCEL.2014.00354
P407
P577
2014-01-01T00:00:00Z