A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel
about
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutationsChloride channels: often enigmatic, rarely predictable.Clinical and genetic heterogeneity in myotonic dystrophies.Anion pathway and potential energy profiles along curvilinear bacterial ClC Cl- pores: electrostatic effects of charged residuesIon permeation and selectivity in ClC-type chloride channels.Bacterial ion channels and their eukaryotic homologues.A personal historic perspective on the role of chloride in skeletal and cardiac muscle.Genetic disorders of neuromuscular ion channels.CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channelMechanism of ion permeation in skeletal muscle chloride channelsHigh-level expression, functional reconstitution, and quaternary structure of a prokaryotic ClC-type chloride channel.Anion permeation in Ca(2+)-activated Cl(-) channels.Myotonia congenita: novel mutations in CLCN1 geneElectrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.Modulation of Chloride Currents in Human Lung Epithelial Cells Exposed to Exogenous Oxidative Stress.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Anion permeation in human ClC-4 channels.Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channelsClC-2 Cl- channels in human lung epithelia: activation by arachidonic acid, amidation, and acid-activated omeprazole.Identification of three cysteines as targets for the Zn2+ blockade of the human skeletal muscle chloride channel.Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C.Pore stoichiometry of a voltage-gated chloride channel.Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions.Pore-forming segments in voltage-gated chloride channels.Identifying swelling-activated channels from ion selectivity patterns.A conserved aspartate determines pore properties of anion channels associated with excitatory amino acid transporter 4 (EAAT4).Residues lining the inner pore vestibule of human muscle chloride channels.The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.Characterization of two new dominant ClC-1 channel mutations associated with myotonia.Functional and structural analysis of ClC-K chloride channels involved in renal disease.ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.A novel alteration of muscle chloride channel gating in myotonia levior.
P2860
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P2860
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel
description
1997 nî lūn-bûn
@nan
1997 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մարտին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A mutation in autosomal domina ...... of the muscle chloride channel
@ast
A mutation in autosomal domina ...... of the muscle chloride channel
@en
A mutation in autosomal domina ...... of the muscle chloride channel
@en-gb
A mutation in autosomal domina ...... of the muscle chloride channel
@nl
type
label
A mutation in autosomal domina ...... of the muscle chloride channel
@ast
A mutation in autosomal domina ...... of the muscle chloride channel
@en
A mutation in autosomal domina ...... of the muscle chloride channel
@en-gb
A mutation in autosomal domina ...... of the muscle chloride channel
@nl
prefLabel
A mutation in autosomal domina ...... of the muscle chloride channel
@ast
A mutation in autosomal domina ...... of the muscle chloride channel
@en
A mutation in autosomal domina ...... of the muscle chloride channel
@en-gb
A mutation in autosomal domina ...... of the muscle chloride channel
@nl
P2860
P356
P1476
A mutation in autosomal domina ...... of the muscle chloride channel
@en
P2093
P2860
P304
P356
10.1073/PNAS.94.6.2729
P407
P577
1997-03-01T00:00:00Z