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
Mechanisms of KCNQ1 gating modulation by KCNE1/3 for cell-specific function.
Cui C et al.
Cell Research, 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
Secondary findings in pediatric genomic testing: clinical insights from Turkey.
Kendir-Demirkol Y et al.
European Journal of Pediatrics, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Rescue of loss-of-function long QT syndrome-associated mutations in KV7.1/KCNE1 by the endocannabinoid N-arachidonoyl-L-serine (ARA-S).
Hiniesto-Iñigo I et al.
British Journal of Pharmacology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.
Zhong L et al.
Circulation Research, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Sieliwonczyk E et al.
Orphanet Journal of Rare Diseases, 2023
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.
Akgun-Dogan O et al.
Journal of Cardiovascular Electrophysiology, 2022
Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.
Rieder M et al.
Frontiers in Cardiovascular Medicine, 2022
Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Braun C et al.
Communications Biology, 2021
Secondary findings in 622 Turkish clinical exome sequencing data.
Arslan Ateş E et al.
Journal of Human Genetics, 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
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
Chen J et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
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
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
Uysal F et al.
Bmc Medical Genetics, 2017
Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
Jiménez-Jáimez J et al.
Revista Espanola De Cardiologia (english Ed.), 2017
Relevance of molecular testing in patients with a family history of sudden death.
Kauferstein S et al.
Forensic Science International, 2017
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
Comprehensive genetic testing can save lives in hereditary hearing loss.
Tekin D et al.
Clinical Genetics, 2015
A Common Mutation of Long QT Syndrome Type 1 in Japan.
Itoh H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating.
Zaydman MA et al.
Frontiers in Physiology, 2014
Opposite Effects of the S4-S5 Linker and PIP(2) on Voltage-Gated Channel Function: KCNQ1/KCNE1 and Other Channels.
Choveau FS et al.
Frontiers in Pharmacology, 2012
The role of abnormal trafficking of KCNE1 in long QT syndrome 5.
Harmer SC et al.
Biochemical Society Transactions, 2007
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
Wilson AJ et al.
Cardiovascular Research, 2005
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
Zareba W et al.
Journal of Cardiovascular Electrophysiology, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
[The long QT interval syndrome as the cause of cardiac syncope].
Gustafsson G et al.
Lakartidningen, 1988
PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.
Matavel A et al.
Channels (austin, Tex.), 0