The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.
about
Diseases associated with leaky hemichannelsMotifs in the permeation pathway of connexin channels mediate voltage and Ca (2+) sensingAberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing lossAltered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndromeGating of Connexin Channels by transjunctional-voltage: Conformations and models of open and closed states.Critical role of ATP-induced ATP release for Ca2+ signaling in nonsensory cell networks of the developing cochlea.Divalent regulation and intersubunit interactions of human connexin26 (Cx26) hemichannels.The First Extracellular Domain Plays an Important Role in Unitary Channel Conductance of Cx50 Gap Junction Channels.Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.Glutathione release through connexin hemichannels: Implications for chemical modification of pores permeable to large molecules.Connexinopathies: a structural and functional glimpseThe NH2 terminus regulates voltage-dependent gating of CALHM ion channels.Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels.Calcium homeostasis modulator (CALHM) ion channels.A Cell-Based Assay to Assess Hemichannel FunctionConnexins: sensors of epidermal integrity that are therapeutic targets.Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.Connexin channels in congenital skin disorders.Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.Human diseases associated with connexin mutations.Gap junction structure: unraveled, but not fully revealed.Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin DisordersStructural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.Calcium binding and voltage gating in Cx46 hemichannels.Permeant-specific gating of connexin 30 hemichannels.Connexin hemichannels and cochlear function.Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.Cues to Opening Mechanisms From in Silico Electric Field Excitation of Cx26 Hemichannel and in Vitro Mutagenesis Studies in HeLa Transfectans.Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome
P2860
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P2860
The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.
description
2013 nî lūn-bûn
@nan
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
2013年论文
@zh
2013年论文
@zh-cn
name
The D50N mutation and syndromi ...... and intersubunit interactions.
@en
type
label
The D50N mutation and syndromi ...... and intersubunit interactions.
@en
prefLabel
The D50N mutation and syndromi ...... and intersubunit interactions.
@en
P2093
P2860
P356
P1476
The D50N mutation and syndromi ...... and intersubunit interactions.
@en
P2093
Helmuth A Sanchez
Krista Villone
Miduturu Srinivas
Vytas K Verselis
P2860
P356
10.1085/JGP.201310962
P577
2013-07-01T00:00:00Z