Associated Papers
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review.
Jin M et al.
Bmc Pediatrics, 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
Transfer RNA-mediated restoration of potassium current and electrical correction in premature termination long-QT syndrome hERG mutants.
Blomquist VG et al.
Molecular Therapy. Nucleic Acids, 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
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
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 2021
Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.
Du F et al.
Medicine, 2020
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 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
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
Influence of genetic modifiers on sudden cardiac death cases.
Jenewein T et al.
International Journal of Legal Medicine, 2018
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family.
Ichikawa M et al.
Internal Medicine (tokyo, Japan), 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
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
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
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
KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.
Zamorano-León JJ et al.
Journal of Neurogenetics, 2012
Trafficking defect and proteasomal degradation contribute to the phenotype of a novel KCNH2 long QT syndrome mutation.
Mihic A et al.
Plos One, 2011
The EGFP/hERG fusion protein alter the electrophysiological properties of hERG channels in HEK293 cells.
Huang N et al.
Cell Biology International, 2011
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.
Yao Y et al.
Heart Rhythm, 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
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
Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization.
Akhavan A et al.
Journal of Cell Science, 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
Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome.
Teng S et al.
Journal of Molecular Medicine (berlin, Germany), 2004
[Functional impact of hERG: from physiological role to target of anticancer therapy].
Šatková J et al.
Vnitrni Lekarstvi, 0
Compound mutations in a patient with congenital long QT syndrome: Clinical challenges and genetic interpretation.
Fukumoto H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0