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
Generation of human induced pluripotent stem cell lines from a fetus with congenital long QT syndrome and her healthy parents.
Putra M et al.
Stem Cell Research, 2025
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.
Li Q et al.
Reviews in Cardiovascular Medicine, 2025
Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the KCNJ2 Mutant Allele.
Wilders R
International Journal of Molecular Sciences, 2024
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
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
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.
Park NK et al.
Human Molecular Genetics, 2024
Precision therapy in congenital long QT syndrome.
Neves R et al.
Trends in Cardiovascular Medicine, 2024
Successful Management of Fetal Torsades de Pointes and Long QT Syndrome by a Cardio-Obstetrical Team.
Putra M et al.
Jacc. Case Reports, 2023
Differential Effects of Remdesivir and Lumacaftor on Homomeric and Heteromeric hERG Channels.
Campagna N et al.
Molecular Pharmacology, 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
The Advantages, Challenges, and Future of Human-Induced Pluripotent Stem Cell Lines in Type 2 Long QT Syndrome.
Cai D et al.
Journal of Cardiovascular Translational Research, 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
Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes.
Ma JG et al.
Frontiers in Physiology, 2023
Suppression and Replacement Gene Therapy for KCNH2-Mediated Arrhythmias.
Bains S et al.
Circulation. Genomic and Precision Medicine, 2022
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.
Blanch-Asensio A et al.
Cell Reports Methods, 2022
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
A High-Throughput Screening Assay to Identify Drugs that Can Treat Long QT Syndrome Caused by Trafficking-Deficient KV11.1 (hERG) Variants.
Egly CL et al.
Molecular Pharmacology, 2022
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
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K et al.
Circulation. Genomic and Precision Medicine, 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
Left Cardiac Sympathetic Denervation Monotherapy in Patients With Congenital Long QT Syndrome.
Niaz T et al.
Circulation. Arrhythmia and Electrophysiology, 2020
Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes.
O'Hare BJ et al.
Circulation. Genomic and Precision Medicine, 2020
Pharmacological activation of IKr in models of long QT Type 2 risks overcorrection of repolarization.
Perry MD et al.
Cardiovascular Research, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Identification of a proton sensor that regulates conductance and open time of single hERG channels.
Wilson SL et al.
Scientific Reports, 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
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
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 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
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan.
Horigome H et al.
Circulation. Arrhythmia and Electrophysiology, 2010
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.
Johnson JN et al.
Neurology, 2009
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
Nagaoka I et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
Berge KE et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2008
Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.
Tan HL et al.
Circulation, 2006
[Electrophysiological characterization of long QT syndrome associated mutations V630A and N633S].
She HR et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2006