Associated Papers
Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.
Janková N 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
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.
Liu H et al.
Pacing and Clinical Electrophysiology : Pace, 2025
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Deciphering HERG mutation in long QT syndrome type 2 using antisense oligonucleotide-mediated techniques: Lessons from cystic fibrosis.
Zheng Z et al.
Heart Rhythm, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
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 Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124.
Chen CC et al.
Biomedicines, 2023
Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.
Rieder M et al.
Frontiers in Cardiovascular Medicine, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
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
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.
Hilke FJ et al.
Cancers, 2020
Stop codons and the +4 nucleotide may influence the efficiency of G418 in rescuing nonsense mutations of the HERG gene.
Yu H et al.
International Journal of Molecular Medicine, 2019
Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome.
De Zio R et al.
Journal of Cellular and Molecular Medicine, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
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
A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.
Wu J et al.
Scientific Reports, 2018
hERG 1a LQT2 C-terminus truncation mutants display hERG 1b-dependent dominant negative mechanisms.
Puckerin A et al.
Heart Rhythm, 2016
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Identification and functional characterization of the human ether-a-go-go-related gene Q738X mutant associated with hereditary long QT syndrome type 2.
Han SN et al.
International Journal of Molecular Medicine, 2014
Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.
Gong Q et al.
Gene, 2014
Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome.
Yu H et al.
International Journal of Molecular Medicine, 2014
Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death.
Hata Y et al.
International Journal of Legal Medicine, 2014
Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.
Jagu B et al.
Frontiers in Physiology, 2013
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
Current pharmacogenomic studies on hERG potassium channels.
He FZ et al.
Trends in Molecular Medicine, 2013
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
Long QT syndrome mutation detection by SNaPshot technique.
Edelmann J et al.
International Journal of Legal Medicine, 2012
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI et al.
Physiological Reviews, 2012
Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.
Zarraga IG et al.
Heart Rhythm, 2011
Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome.
Gong Q et al.
Journal of Molecular and Cellular Cardiology, 2011
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.
Harkcom WT et al.
Expert Review of Cardiovascular Therapy, 2010
HERG1 channelopathies.
Sanguinetti MC
Pflugers Archiv : European Journal of Physiology, 2010
Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.
Yao Y et al.
Heart Rhythm, 2009
A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope.
Christé G et al.
Heart Rhythm, 2008
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
Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.
Biliczki P et al.
Heart Rhythm, 2008
Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome.
Gong Q et al.
Circulation, 2007
HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.
Paulussen AD et al.
Cardiovascular Research, 2005
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome.
Gong Q et al.
Journal of Molecular and Cellular Cardiology, 2004
A new oral therapy for long QT syndrome: long-term oral potassium improves repolarization in patients with HERG mutations.
Etheridge SP et al.
Journal of the American College of Cardiology, 2003
Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.
Kupershmidt S et al.
The Journal of Biological Chemistry, 2002
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Human ether-a-go-go related gene (hERG) K+ channels: function and dysfunction.
Perrin MJ et al.
Progress in Biophysics and Molecular Biology, 0