Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
about
ChannelopathiesThe Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialGenetic disruption of voltage-gated calcium channels in psychiatric and neurological disordersMolecular and genetic basis of sudden cardiac deathIon Channels in the HeartAtrial arrhythmias in inherited arrhythmogenic disordersIon channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac deathFunctional characterization of CaVα2δ mutations associated with sudden cardiac deathThe new kids on the block of arrhythmogenic disorders: Short QT Syndrome and early repolarization.Short QT Syndrome - Review of Diagnosis and Treatment.Short QT syndrome in pediatrics.Apamin does not inhibit human cardiac Na+ current, L-type Ca2+ current or other major K+ currentsNovel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children.Regulation of high-voltage-activated Ca(2+) channel function, trafficking, and membrane stability by auxiliary subunits.Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study.PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome?Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond.Pathways-driven sparse regression identifies pathways and genes associated with high-density lipoprotein cholesterol in two Asian cohortsGenomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disabilityCharacterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.L-Type Calcium Channel Inhibition Contributes to the Proarrhythmic Effects of Aconitine in Human Cardiomyocytes.Drug-induced QT-interval shortening following antiepileptic treatment with oral rufinamide.In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles.Cardiac ion channelopathies and the sudden infant death syndromeKCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmiaIdentification of Glycosylation Sites Essential for Surface Expression of the CaVα2δ1 Subunit and Modulation of the Cardiac CaV1.2 Channel Activity.Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies.Mechanisms of drug-induced proarrhythmia in clinical practice.The α2δ-1 subunit remodels CaV1.2 voltage sensors and allows Ca2+ influx at physiological membrane potentialsVoltage-gated calcium channels and their auxiliary subunits: physiology and pathophysiology and pharmacologyNovel insight into the natural history of short QT syndrome.Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic AdvancesInherited calcium channelopathies in the pathophysiology of arrhythmias.Genetics of sudden cardiac death in children and young athletes.Optical and electrical recordings from isolated coronary-perfused ventricular wedge preparations.Negative autopsy and sudden cardiac death.Genetics of sudden cardiac death in the young.Murine Electrophysiological Models of Cardiac Arrhythmogenesis.
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P2860
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
description
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2011
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im Mai 2011 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2011/05/01)
@sk
vědecký článek publikovaný v roce 2011
@cs
wetenschappelijk artikel (gepubliceerd op 2011/05/01)
@nl
наукова стаття, опублікована в травні 2011
@uk
مقالة علمية (نشرت في مايو 2011)
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name
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@ast
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@en
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@nl
type
label
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@ast
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@en
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@nl
prefLabel
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@ast
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@en
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@nl
P2093
P2860
P50
P3181
P356
P1476
Identification of a novel loss ...... n in short QT syndrome (SQTS6)
@en
P2093
Alessandra Baumer
Christian Templin
Colleen Puleo
Firat Duru
Héctor Barajas-Martinez
Jelena-Rima Ghadri
Maxime Albesa
Thomas F. Lüscher
Vladimir Kaplan
P2860
P304
P3181
P356
10.1093/EURHEARTJ/EHR076
P577
2011-05-01T00:00:00Z