Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.
Bileisiene N et al.
Bmc Cardiovascular Disorders, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.
Bukaeva A et al.
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
Decoding polyubiquitin regulation of KV7. 1 functional expression with engineered linkage-selective deubiquitinases.
Shanmugam SK et al.
Biorxiv : the Preprint Server for Biology, 2024
A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.
Li B et al.
Biochemical and Biophysical Research Communications, 2024
Cardiac Repolarization in Health and Disease.
Krijger Juárez C et al.
Jacc. Clinical Electrophysiology, 2023
To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.
Winbo A et al.
Journal of the American Heart Association, 2022
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Stepwise ABC system for classification of any type of genetic variant.
Houge G et al.
European Journal of Human Genetics : Ejhg, 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
Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels.
Zou X et al.
Frontiers in Physiology, 2022
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
Kokkonen H et al.
Molecular Genetics & Genomic Medicine, 2021
Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.
Kasak L et al.
Journal of the American Heart Association, 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
Controlling ion channel trafficking by targeted ubiquitination and deubiquitination.
Morgenstern TJ et al.
Methods in Enzymology, 2021
An NGS-based genotyping in LQTS; minor genes are no longer minor.
Ohno S et al.
Journal of Human Genetics, 2020
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.
Streeten EA et al.
Circulation. Genomic and Precision Medicine, 2020
Targeted deubiquitination rescues distinct trafficking-deficient ion channelopathies.
Kanner SA et al.
Nature Methods, 2020
The evolution of gene-guided management of inherited arrhythmia syndromes: Peering beyond monogenic paradigms towards comprehensive genomic risk scores.
Rowe MK et al.
Journal of Cardiovascular Electrophysiology, 2020
Systematic Evaluation of KCNQ1 Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1.
Kashiwa A et al.
Circulation. Genomic and Precision Medicine, 2020
Genome-wide association studies of cardiac electrical phenotypes.
Glinge C et al.
Cardiovascular Research, 2020
Epidemiology of inherited arrhythmias.
Offerhaus JA et al.
Nature Reviews. Cardiology, 2020
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
The Efficacy of Beta-Blockers in Patients With Long QT Syndrome 1-3 According to Individuals' Gender, Age, and QTc Intervals: A Network Meta-analysis.
Han L et al.
Frontiers in Pharmacology, 2020
Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders
Cerrone M et al.
Circulation, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Modifier genes for sudden cardiac death.
Schwartz PJ et al.
European Heart Journal, 2018
Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation.
Wuriyanghai Y et al.
Heart Rhythm, 2018
Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes.
Bhuiyan ZA
Heart Rhythm, 2018
Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
Koponen M et al.
Bmc Medical Genetics, 2018
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ et al.
Heart Rhythm, 2018
The phenotype is equally important in promoting variants from benign to pathogenic as well as in demoting variants from pathogenic to benign.
Amin AS et al.
Heart Rhythm, 2018
The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
Huttunen H et al.
Frontiers in Endocrinology, 2018
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J et al.
Nature Communications, 2017