Cardiac channelopathies: genetic and molecular mechanisms.
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Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channelsFaulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotypeSudden death associated with QT interval prolongation and KCNQ1 gene mutation in a family of English Springer Spaniels.CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia.Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.Functional interaction between S1 and S4 segments in voltage-gated sodium channels revealed by human channelopathiesA Case for Inclusion of Genetic Counselors in Cardiac CareThe RyR2-P2328S mutation downregulates Nav1.5 producing arrhythmic substrate in murine ventricles.Regional ion channel gene expression heterogeneity and ventricular fibrillation dynamics in human hearts.Simultaneous Non-Invasive Epicardial and Endocardial Mapping in Patients With Brugada Syndrome: New Insights Into Arrhythmia Mechanisms.Mouse models of arrhythmogenic cardiovascular disease: challenges and opportunities.SK4 K+ channels are therapeutic targets for the treatment of cardiac arrhythmiasInduced pluripotent stem cells as cardiac arrhythmic in vitro models and the impact for drug discovery.Negative autopsy and sudden cardiac death.Determination of the Relative Cell Surface and Total Expression of Recombinant Ion Channels Using Flow Cytometry.Cardiac Delayed Rectifier Potassium Channels in Health and Disease.Is There a Role for Genetics in the Prevention of Sudden Cardiac Death?Pharmacogenomics and pharmacogenetics for the intensive care unit: a narrative review.Antiarrhythmic Action of Flecainide in Polymorphic Ventricular Arrhythmias Caused by a Gain-of-Function Mutation in the Nav 1.5 Sodium Channel.Insight into the Meligethes aeneus voltage-sensitive sodium channel structure and an attempt to select the best pyrethroid ligands.Humans Vary, So Cardiac Models Should Account for That Too!In Silico Evaluation of the Potential Antiarrhythmic Effect of Epigallocatechin-3-Gallate on Cardiac Channelopathies.The rescuable function and mechanism of resveratrol on As₂O₃-induced hERG K⁺ channel deficiency.Potassium currents in the heart: functional roles in repolarization, arrhythmia and therapeutics.Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling.β-blockers in congenital short-QT syndrome as ion channel blockers.Sudden death during struggle in the setting of heterozygosity for a mutation in calsequesterin 2.Express with caution: Epitope tags and cDNA variants effects on hERG channel trafficking, half-life and function.Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.Clenbuterol Attenuates hERG Channel by Promoting the Mature Channel Degradation.Sinus Bradycardia in Carriers of the SCN5A-1795insD Mutation: Unraveling the Mechanism through Computer Simulations.Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.
P2860
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P2860
Cardiac channelopathies: genetic and molecular mechanisms.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Cardiac channelopathies: genetic and molecular mechanisms.
@en
type
label
Cardiac channelopathies: genetic and molecular mechanisms.
@en
prefLabel
Cardiac channelopathies: genetic and molecular mechanisms.
@en
P1433
P1476
Cardiac channelopathies: genetic and molecular mechanisms
@en
P2093
Elena V Zaklyazminskaya
Hugues Abriel
P356
10.1016/J.GENE.2012.12.061
P407
P577
2012-12-22T00:00:00Z