Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. - Wikidata - wikimedia - TriplyDB

Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.

Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.

http://www.wikidata.org/entity/Q30497826

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Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death Ion channel gene expression in the inner ear Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties The endocochlear potential depends on two K+ diffusion potentials and an electrical barrier in the stria vascularis of the inner ear Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model.Genetics of hearing and deafness The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.Electrogram prolongation and nifedipine-suppressible ventricular arrhythmias in mice following targeted disruption of KCNE1 KCNQ1-dependent transport in renal and gastrointestinal epithelia A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.The sound of silence: mouse models for hearing loss Mouse models of long QT syndrome.A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report Cardiac Arrhythmia: In vivo screening in the zebrafish to overcome complexity in drug discovery Several polymorphisms of KCNQ1 gene are associated with plasma lipid levels in general Chinese populations.The KCNQ1 potassium channel: from gene to physiological function.The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene.Computational model of vectorial potassium transport by cochlear marginal cells and vestibular dark cells.Molecular mechanisms of calcium-sensing receptor-mediated calcium signaling in the modulation of epithelial ion transport and bicarbonate secretion Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.Application of physiological genomics to the study of hearing disorders.The role of imprinted genes in fetal growth abnormalities.ENU mutagenesis screen to establish motor phenotypes in wild-type mice and modifiers of a pre-existing motor phenotype in tau mutant mice.An in vitro mouse model of congenital cytomegalovirus-induced pathogenesis of the inner ear cochlea.Arrhythmogenic mechanisms in the isolated perfused hypokalaemic murine heart.Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro Paternal allelic mutation at the Kcnq1 locus reduces pancreatic β-cell mass by epigenetic modification of Cdkn1c Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome.Kcnq1 contributes to an adrenergic-sensitive steady-state K+ current in mouse heart.Separation of early afterdepolarizations from arrhythmogenic substrate in the isolated perfused hypokalaemic murine heart through modifiers of calcium homeostasis.Mixing model systems: using zebrafish and mouse inner ear mutants and other organ systems to unravel the mystery of otoconial development Pharmacological properties and functional role of Kslow current in mouse pancreatic beta-cells: SK channels contribute to Kslow tail current and modulate insulin secretion Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential.Effects of potassium channel openers in the isolated perfused hypokalaemic murine heart.KCNQ1 and KCNE1 K+ channel components are involved in early left-right patterning in Xenopus laevis embryos.Increased late sodium current contributes to long QT-related arrhythmia susceptibility in female mice.Hypothyroidism of gene-targeted mice lacking Kcnq1.

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Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.

http://www.wikidata.org/entity/Q30497826

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2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2001 թվականի փետրվարին հրատարակված գիտական հոդված

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2001年の論文

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Targeted disruption of the Kcn ...... ll and Lange-Nielsen Syndrome.

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Targeted disruption of the Kcn ...... ll and Lange-Nielsen Syndrome.

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Targeted disruption of the Kcn ...... ll and Lange-Nielsen Syndrome.

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Targeted disruption of the Kcn ...... ll and Lange-Nielsen Syndrome.

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Targeted disruption of the Kcn ...... ll and Lange-Nielsen Syndrome.

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Targeted disruption of the Kcn ...... ll and Lange-Nielsen Syndrome.

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Proceedings of the National Academy of Sciences of the United States of America

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Targeted disruption of the Kcn ...... ell and Lange-Nielsen Syndrome

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P2093

A E Greene

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A Grinberg

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J C Vary

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M C Casimiro

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M R Franz

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S N Ebert

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S P Huang

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P2860

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

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

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

Mutations in the hminK gene cause long QT syndrome and suppress IKs function

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse

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2526-2531

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10.1073/PNAS.041398998

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5

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98

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Bjorn C. Knollmann

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2001-02-01T00:00:00Z

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12105751

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11226272

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30171

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