Molecular basis for decreased muscle chloride conductance in the myotonic goat
about
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channelA novel mutation in CLCN1 associated with feline myotonia congenitaChannelopathies of skeletal muscle excitabilityImpaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutationsAnion transport in heartA cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membraneThe non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Fatigue-inducing stimulation resolves myotonia in a drug-induced model.CLC channel function and dysfunction in health and disease.A structural perspective on ClC channel and transporter function.Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotoniaMuscle chloride channel dysfunction in two mouse models of myotonic dystrophy.Mechanism of ion permeation in skeletal muscle chloride channelsA critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chickenCell biology and physiology of CLC chloride channels and transporters.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Gating of human ClC-2 chloride channels and regulation by carboxy-terminal domains.Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channelsThe role of the carboxyl terminus in ClC chloride channel function.Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutationsFunctional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1.Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.Altered gating and regulation of a carboxy-terminal ClC channel mutant expressed in the Caenorhabditis elegans oocyte.Impaired Wheel Running Exercise in CLC-1 Chloride Channel-Deficient Myotonic Mice.Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011-2012).The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.Coexpression of complementary fragments of ClC-5 and restoration of chloride channel function in a Dent's disease mutation.ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.Isotonic contractile impairment due to genetic CLC-1 chloride channel deficiency in myotonic mouse diaphragm muscle.A novel alteration of muscle chloride channel gating in myotonia levior.Cl- transport in the lobster stretch receptor neurone.CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and PhysiologyThe Application of Genomic Technologies to Investigate the Inheritance of Economically Important Traits in Goats
P2860
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P2860
Molecular basis for decreased muscle chloride conductance in the myotonic goat
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@ast
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@en
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@nl
type
label
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@ast
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@en
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@nl
prefLabel
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@ast
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@en
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@nl
P2860
P3181
P356
P1476
Molecular basis for decreased muscle chloride conductance in the myotonic goat
@en
P2093
P2860
P304
11248-11252
P3181
P356
10.1073/PNAS.93.20.11248
P407
P577
1996-10-01T00:00:00Z