Associated Papers
Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.
Chamoieva A et al.
Journal of Personalized Medicine, 2026
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 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
Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C).
Li X et al.
Stem Cell Research, 2025
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
d'Apolito M et al.
International Journal of Molecular Sciences, 2025
A synonymous KCNH2 polymorphism and methadone trough level influence QTc prolongation in Kelantanese Malay recipients of methadone maintenance therapy (MMT) in Malaysia.
Abdul Jalal MI et al.
Plos One, 2025
Long-term Monitoring to Detect Risk of Sudden Cardiac Death in Inherited Arrhythmia Patients.
Domain G et al.
Cjc Open, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Very important pharmacogenetic variants landscape and potential clinical relevance in the Zhuang population from Yunnan province.
Li Y et al.
Scientific Reports, 2024
Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias.
Li S et al.
Gene, 2024
Novel Phenotypic Effects of a Rare SCN5A (c.2482C>T) Mutation.
Schwartzman KH et al.
Jacc. Case Reports, 2024
Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.
Owusu-Mensah A et al.
Plos One, 2024
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.
Popa-Fotea NM et al.
International Journal of Molecular Sciences, 2023
Functional identification of hot-spot mutations in cardiac calcium channel genes associated with the J wave syndromes.
Zeng B et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 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
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS et al.
Human Molecular Genetics, 2023
hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IKr) in cardiomyocytes derived from hiPSCs.
Ukachukwu CU et al.
The Journal of Biological Chemistry, 2023
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
PhosVarDeep: deep-learning based prediction of phospho-variants using sequence information.
Liu X et al.
Peerj, 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
H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.
Farrugia A et al.
International Journal of Molecular Sciences, 2021
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K et al.
Circulation. Genomic and Precision Medicine, 2021
Functional testing for variant prioritization in a family with long QT syndrome.
Najari Beidokhti M et al.
Molecular Genetics and Genomics : Mgg, 2021
Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.
Pernaute-Lau L et al.
Antimicrobial Agents and Chemotherapy, 2021
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M et al.
Circulation. Genomic and Precision Medicine, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2.
van den Brink L et al.
Frontiers in Physiology, 2021
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.
Zhang Y et al.
Physiological Reports, 2020
Genome-wide association studies of cardiac electrical phenotypes.
Glinge C et al.
Cardiovascular Research, 2020
A distinct molecular mechanism by which phenytoin rescues a novel long QT 3 variant.
Gando I et al.
Journal of Molecular and Cellular Cardiology, 2020
HERG channel and cancer: A mechanistic review of carcinogenic processes and therapeutic potential.
He S et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2020
Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population.
Wang F et al.
Cardiology, 2020
Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation.
Santori M et al.
Forensic Science International. Genetics, 2019
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.
Renaux A et al.
Nucleic Acids Research, 2019
Characterization of Plasma Membrane Localization and Phosphorylation Status of Organic Anion Transporting Polypeptide (OATP) 1B1 c.521 T>C Nonsynonymous Single-Nucleotide Polymorphism.
Crowe A et al.
Pharmaceutical Research, 2019
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.
Krych M et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Genetic Association Study in Multigenerational Kindreds With Vasovagal Syncope: Evidence for Involvement of Sex-Specific Serotonin Signaling.
Sheldon R et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Modifier genes for sudden cardiac death.
Schwartz PJ et al.
European Heart Journal, 2018
Mechanisms Underlying the Actions of Antidepressant and Antipsychotic Drugs That Cause Sudden Cardiac Arrest.
Sicouri S et al.
Arrhythmia & Electrophysiology Review, 2018
Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.
Garg P et al.
Circulation Research, 2018