Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
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Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brainNovel mutations in families with unusual and variable disorders of the skeletal muscle sodium channelHuman sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linkerTheoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels.A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivationTargeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humansPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonThe molecular basis of genetic dominanceModulation of skeletal muscle sodium channels by human myotonin protein kinase.The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Ion channel genes and human neurological disease: recent progress, prospects, and challenges.Neurological channelopathies: diagnosis and therapy in the new millennium.Inherited disorders of voltage-gated sodium channels.Interaction between the sodium channel inactivation linker and domain III S4-S5.Full-length myotonin protein kinase (72 kDa) displays serine kinase activityEFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila.Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second geneLinkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.Adenovirus-mediated expression of a voltage-gated potassium channel in vitro (rat cardiac myocytes) and in vivo (rat liver). A novel strategy for modifying excitabilityA gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.Ion channels: function unravelled by dysfunction.Effect of sodium channel abundance on Drosophila development, reproductive capacity and agingSodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralyticA cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation.Mutational consequences of aberrant ion channels in neurological disorders.Skeletal muscle na channel disorders.Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.Ion channel mutations in periodic paralysis and related myotonic diseases.What activates inactivation?Ion channel shake-down.Opening the gates on ion channel diseases.
P2860
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P2860
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
description
1992 nî lūn-bûn
@nan
1992 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@ast
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@en
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@nl
type
label
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@ast
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@en
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@nl
prefLabel
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@ast
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@en
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@nl
P2093
P1433
P1476
Temperature-sensitive mutation ...... gene in paramyotonia congenita
@en
P2093
A I McClatchey
C Verellen
D McKenna-Yasek
J L Haines
M A Pericak-Vance
P Van den Bergh
P304
P356
10.1016/0092-8674(92)90151-2
P407
P577
1992-02-21T00:00:00Z