Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants.
Mkrtchyan L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.
Micheu MM et al.
World Journal of Stem Cells, 2021
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Cui J
Biophysical Journal, 2016
Finding the rhythm of sudden cardiac death: new opportunities using induced pluripotent stem cell-derived cardiomyocytes.
Sallam K et al.
Circulation Research, 2015
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
Genome editing of isogenic human induced pluripotent stem cells recapitulates long QT phenotype for drug testing.
Wang Y et al.
Journal of the American College of Cardiology, 2014
Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.
Seebohm G et al.
Circulation Research, 2008
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Transcription factor MEF2A mutations in patients with coronary artery disease.
Bhagavatula MR et al.
Human Molecular Genetics, 2004
Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.
Zehelein J et al.
Biochimica Et Biophysica Acta, 2004
Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels.
Seebohm G et al.
Circulation Research, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].
Novotný T et al.
Vnitrni Lekarstvi, 1999
Ion channel defects in cardiac arrhythmia.
Kirsch GE
The Journal of Membrane Biology, 1999
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
Wang Z et al.
Journal of Cardiovascular Electrophysiology, 1999
Molecular genetics of inherited long QT syndromes.
Geelen JL et al.
European Heart Journal, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997