Associated Papers
Gene Therapy for Inherited Cardiac Arrhythmias.
Turkieltaub Paredes MR et al.
Journal of Cardiovascular Translational Research, 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
Beneficial action potential duration-shortening effects, but deleterious negative inotropism of IKs-activator docosahexaenoyl glycine in long QT syndrome type 2.
Louradour J et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Rescue of loss-of-function long QT syndrome-associated mutations in KV7.1/KCNE1 by the endocannabinoid N-arachidonoyl-L-serine (ARA-S).
Hiniesto-Iñigo I et al.
British Journal of Pharmacology, 2025
KCNQ1 suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome.
Bains S et al.
European Heart Journal, 2024
Interactions between KCNQ1 and KCNH2 may modulate the long QT type 1 phenotype.
Odening KE
Cardiovascular Research, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2.
Giannetti F et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Physiological Functions, Biophysical Properties, and Regulation of KCNQ1 (KV7.1) Potassium Channels.
Sanguinetti MC et al.
Advances in Experimental Medicine and Biology, 2021
Transgenic LQT2, LQT5, and LQT2-5 rabbit models with decreased repolarisation reserve for prediction of drug-induced ventricular arrhythmias.
Hornyik T et al.
British Journal of Pharmacology, 2020
Heritable arrhythmias associated with abnormal function of cardiac potassium channels.
Crotti L et al.
Cardiovascular Research, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Electro-mechanical (dys-)function in long QT syndrome type 1.
Ziupa D et al.
International Journal of Cardiology, 2019
A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.
Chen XM et al.
Heart and Vessels, 2019
Transient Outward K+ Current (Ito) Underlies the Right Ventricular Initiation of Polymorphic Ventricular Tachycardia in a Transgenic Rabbit Model of Long-QT Syndrome Type 1.
Choi BR et al.
Circulation. Arrhythmia and Electrophysiology, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Transgenic rabbit models to investigate the cardiac ion channel disease long QT syndrome.
Lang CN et al.
Progress in Biophysics and Molecular Biology, 2016
Mechanisms of acquired long QT syndrome in patients with propionic academia.
Bodi I et al.
Heart Rhythm, 2016
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
Determining the pathogenicity of genetic variants associated with cardiac channelopathies.
Campuzano O et al.
Scientific Reports, 2015
A Common Mutation of Long QT Syndrome Type 1 in Japan.
Itoh H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Long QT syndrome in South Africa: the results of comprehensive genetic screening.
Hedley PL et al.
Cardiovascular Journal of Africa, 2013
In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models.
Hoefen R et al.
Journal of the American College of Cardiology, 2012
Heuristic methods for finding pathogenic variants in gene coding sequences.
Ohanian M et al.
Journal of the American Heart Association, 2012
Proteomic analyses of transgenic LQT1 and LQT2 rabbit hearts elucidate an increase in expression and activity of energy producing enzymes.
Jindal HK et al.
Journal of Proteomics, 2012
Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.
Couderc JP et al.
Journal of the American Heart Association, 2012
Electrophysiological studies of transgenic long QT type 1 and type 2 rabbits reveal genotype-specific differences in ventricular refractoriness and His conduction.
Odening KE et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2010
Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
Jons C et al.
Journal of Cardiovascular Electrophysiology, 2009
The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes.
Li W et al.
Biochemical and Biophysical Research Communications, 2009
Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome.
Brunner M et al.
The Journal of Clinical Investigation, 2008
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.
Tan HL et al.
Circulation, 2006
[Genetics of atrial fibrillation: rare mutations, common variants and clinical relevance?].
Sinner MF et al.
Herzschrittmachertherapie & Elektrophysiologie, 2006
KCNQ1 K+ channel-mediated cardiac channelopathies.
Loussouarn G et al.
Methods in Molecular Biology (clifton, N.j.), 2006
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
Van Langen IM et al.
Journal of Medical Genetics, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.
Sanguinetti MC
Journal of Cardiovascular Electrophysiology, 2000
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
Chouabe C et al.
Cardiovascular Research, 2000
[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].
Novotný T et al.
Vnitrni Lekarstvi, 1999