Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC 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, 2026
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
Jou CJ et al.
Circulation Research, 2013
A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome.
Liu L et al.
Heart Rhythm, 2013
A novel missense mutation causing a G487R substitution in the S2-S3 loop of human ether-à-go-go-related gene channel.
Kinoshita K et al.
Journal of Cardiovascular Electrophysiology, 2012
Ion channel phosphorylopathy: a link between genomic variation and human disease.
Gentile S
Chemmedchem, 2012
Modelling and imaging cardiac repolarization abnormalities.
Rudy Y
Journal of Internal Medicine, 2006
Biology of cardiac arrhythmias: ion channel protein trafficking.
Delisle BP et al.
Circulation Research, 2004
Inherited arrhythmic disorders in Japan.
Hiraoka M
Journal of Cardiovascular Electrophysiology, 2003
Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death.
Clancy CE et al.
Cardiovascular Research, 2001
Long QT syndrome: cellular basis and arrhythmia mechanism in LQT2.
January CT et al.
Journal of Cardiovascular Electrophysiology, 2000
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
A plethora of mechanisms in the HERG-related long QT syndrome. Genetics meets electrophysiology.
Roden DM et al.
Cardiovascular Research, 1999
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
Yoshida H et al.
Journal of Cardiovascular Electrophysiology, 1999
Ion channel defects in cardiac arrhythmia.
Kirsch GE
The Journal of Membrane Biology, 1999
Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.
Furutani M et al.
Circulation, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999
Biophysical properties and molecular basis of cardiac rapid and slow delayed rectifier potassium channels.
Mitcheson JS et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 1999
Molecular genetics of inherited long QT syndromes.
Geelen JL et al.
European Heart Journal, 1998
Novel mechanism of HERG current suppression in LQT2: shift in voltage dependence of HERG inactivation.
Nakajima T et al.
Circulation Research, 1998
HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.
Zhou Z et al.
The Journal of Biological Chemistry, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997