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
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
L539 fs/47, a truncated mutation of human ether-a-go-go-related gene (hERG), decreases hERG ion channel currents in HEK 293 cells.
Zhang A et al.
Clinical and Experimental Pharmacology & Physiology, 2013
Functional studies on three novel HCNH2 mutations in Taiwan: identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect.
Hsueh CH et al.
Biochemical and Biophysical Research Communications, 2008
The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells.
Huo J et al.
Pflugers Archiv : European Journal of Physiology, 2008
[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].
Li CL et al.
Zhonghua Nei Ke Za Zhi, 2007
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
Liu WL et al.
Zhonghua Nei Ke Za Zhi, 2006
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Liu WL et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2005
[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].
Li P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
The HERG K+ channel: progress in understanding the molecular basis of its unusual gating kinetics.
Vandenberg JI et al.
European Biophysics Journal : Ebj, 2004
Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.
Liu W et al.
Chinese Medical Journal, 2003
Inherited arrhythmic disorders in Japan.
Hiraoka M
Journal of Cardiovascular Electrophysiology, 2003
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Liu W et al.
Human Mutation, 2002
Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.
Hayashi K et al.
Cardiovascular Research, 2002
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Novel gain-of-function mechanism in K(+) channel-related long-QT syndrome: altered gating and selectivity in the HERG1 N629D mutant.
Lees-Miller JP et al.
Circulation Research, 2000
A plethora of mechanisms in the HERG-related long QT syndrome. Genetics meets electrophysiology.
Roden DM et al.
Cardiovascular Research, 1999
Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2.
Nakajima T 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
Inhibition of HERG channels stably expressed in a mammalian cell line by the antianginal agent perhexiline maleate.
Walker BD et al.
British Journal of Pharmacology, 1999
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
Chen J et al.
The Journal of Biological Chemistry, 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
[Sudden death due to genetic and biochemical disorders --long QT syndrome].
Hoshino Y et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997