Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix
about
Atomic force microscopy shows connexin26 hemichannel clustering in purified membrane fragments.Connexinopathies: a structural and functional glimpseA novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairmentMix and match: investigating heteromeric and heterotypic gap junction channels in model systems and native tissues.Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q34631142-0068C51C-0B93-4E91-B8D9-A144D30CB410Q36031035-F09E2165-BDAB-42FC-9FBA-83941CA2BFCAQ37556411-60CDB1A9-099E-4505-B5F8-435A2C4A5F60Q38190331-9844B942-ECD5-4AE2-92B1-1C666C6DBECBQ40497632-34836BFC-F876-4B6D-9604-583F77F7D635Q47222280-6F7AC4D3-5CFD-4739-8F54-425EB697E4FEQ57455558-CF37A836-AC88-4169-BF2B-96554E8F3B5E
P2860
Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix
description
2013 nî lūn-bûn
@nan
2013 թուականին հրատարակուած գիտական յօդուած
@hyw
2013 թվականին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@ast
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@en
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@nl
type
label
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@ast
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@en
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@nl
prefLabel
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@ast
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@en
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@nl
P2093
P2860
P3181
P1433
P1476
Analysis of trafficking, stabi ...... the fourth transmembrane helix
@en
P2093
Adam D Depriest
Amy E Walker
Angela C Cone
Cinzia Ambrosi
Gina E Sosinsky
I Martha Skerrett
John Badger
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0070916
P407
P577
2013-01-01T00:00:00Z