Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. - Wikidata - wikimedia - TriplyDB

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

http://www.wikidata.org/entity/Q48045058

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KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels.Genetics of inherited primary arrhythmia disorders Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions Ion channels and epilepsy Functional consequences of the arrhythmogenic G306R KvLQT1 K+ channel mutant probed by viral gene transfer in cardiomyocytes Two open states and rate-limiting gating steps revealed by intracellular Na+ block of human KCNQ1 and KCNQ1/KCNE1 K+ channels Hexachlorophene is a potent KCNQ1/KCNE1 potassium channel activator which rescues LQTs mutants Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Potassium ion movement in the inner ear: insights from genetic disease and mouse models Alternative translation initiation in rat brain yields K2P2.1 potassium channels permeable to sodium High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.Inherited and acquired vulnerability to ventricular arrhythmias: cardiac Na+ and K+ channels.Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.Ion channel genes and human neurological disease: recent progress, prospects, and challenges.Dysfunction of delayed rectifier potassium channels in an inherited cardiac arrhythmia.The genetics of cardiac arrhythmias.Unraveling monogenic channelopathies and their implications for complex polygenic disease Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.Activation and inactivation of homomeric KvLQT1 potassium channels.The specific slow afterhyperpolarization inhibitor UCL2077 is a subtype-selective blocker of the epilepsy associated KCNQ channels Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.The KCNQ1 potassium channel: from gene to physiological function.Genetic disorders of neuromuscular ion channels.Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.Single-channel characteristics of wild-type IKs channels and channels formed with two minK mutants that cause long QT syndrome.KCNQ1 and KCNE1 K+ channel components are involved in early left-right patterning in Xenopus laevis embryos.Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity Nervous system KV7 disorders: breakdown of a subthreshold brake.Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss Molecular mechanisms of inherited arrhythmias.The genetic and clinical features of cardiac channelopathies.Keeping the rhythm: hERG and beyond in cardiovascular safety pharmacology.

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P2860

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

http://www.wikidata.org/entity/Q48045058

description

1997 nî lūn-bûn

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1997年の論文

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1997年学术文章

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1997年学术文章

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1997年学术文章

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1997年学术文章

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1997年学术文章

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1997年学术文章

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1997年學術文章

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1997年學術文章

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name

Pathophysiological mechanisms ...... inherited cardiac arrhythmias.

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Pathophysiological mechanisms ...... inherited cardiac arrhythmias.

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Pathophysiological mechanisms ...... inherited cardiac arrhythmias.

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Pathophysiological mechanisms ...... inherited cardiac arrhythmias.

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Pathophysiological mechanisms ...... inherited cardiac arrhythmias.

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Pathophysiological mechanisms ...... inherited cardiac arrhythmias.

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Pathophysiological mechanisms ...... inherited cardiac arrhythmias.

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Esperer HD

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Kubisch C

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Schroeder BC

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P2860

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

HERG, a human inward rectifier in the voltage-gated potassium channel family

Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

A family of potassium channel genes related to eag in Drosophila and mammals

Cloning of a membrane protein that induces a slow voltage-gated potassium current

K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

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9302275

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pathophysiology