Associated Papers
Functions of the KCNE Gene Family in Ion Channels.
Xiao J et al.
Biochemical Genetics, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The Multifunctional Role of KCNE2: From Cardiac Arrhythmia to Multisystem Disorders.
Song M et al.
Cells, 2024
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM et al.
Circulation, 2022
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Witte HM et al.
Blood Advances, 2022
RBM20 mutation and ventricular arrhythmias in a young patient with dilated cardiomyopathy: a case report.
Liatakis I et al.
American Journal of Cardiovascular Disease, 2021
Cardiac and neuronal HCN channelopathies.
Rivolta I et al.
Pflugers Archiv : European Journal of Physiology, 2020
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome-Susceptibility Gene-Disease Associations.
Giudicessi JR et al.
Circulation, 2020
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
Unknown Author
American Journal of Human Genetics, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
DiFrancesco JC et al.
Epilepsy Research, 2019
Disease-linked mutations alter the stoichiometries of HCN-KCNE2 complexes.
Lussier Y et al.
Scientific Reports, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
Roberts JD et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.
Ghouse J et al.
European Heart Journal, 2015
In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.
Romero L et al.
Journal of Molecular and Cellular Cardiology, 2015
HCN4, Sinus Bradycardia and Atrial Fibrillation.
DiFrancesco D
Arrhythmia & Electrophysiology Review, 2015
Clinical association between pharmacogenomics and adverse drug reactions.
Zhou ZW et al.
Drugs, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Pacemaker activity of the human sinoatrial node: an update on the effects of mutations in HCN4 on the hyperpolarization-activated current.
Verkerk AO et al.
International Journal of Molecular Sciences, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.
Romero L et al.
Journal of Molecular and Cellular Cardiology, 2014
The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E et al.
British Journal of Clinical Pharmacology, 2014
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
An LQTS6 MiRP1 mutation suppresses pacemaker current and is associated with sinus bradycardia.
Nawathe PA et al.
Journal of Cardiovascular Electrophysiology, 2013
KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?
Abbott GW
Expert Review of Clinical Pharmacology, 2013
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.
Trolle C et al.
Plos One, 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.
Eldstrom J et al.
Expert Reviews in Molecular Medicine, 2011
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.
Wu J et al.
Heart Rhythm, 2010
Regulation of the Kv2.1 potassium channel by MinK and MiRP1.
McCrossan ZA et al.
The Journal of Membrane Biology, 2009
A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance.
Gordon E et al.
Cardiovascular Research, 2008
Genetic polymorphisms and arrhythmia susceptibility.
Makita N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
Risk factors for drug-induced long-QT syndrome.
Paulussen AD et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2005
Pharmacogenetic considerations in diseases of cardiac ion channels.
Anantharam A et al.
The Journal of Pharmacology and Experimental Therapeutics, 2003
Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6.
Lu Y et al.
The Journal of Physiology, 2003