Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
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
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 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
Clinical and genetic yield of familial screening after a sudden unexplained death at a young age.
Chmielewski P et al.
Kardiologia Polska, 2024
Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents.
Nakajima T et al.
Frontiers in Physiology, 2024
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.
Homma K
Biomedicines, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.
Saat H et al.
Anatolian Journal of Cardiology, 2022
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
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
KCNQs: Ligand- and Voltage-Gated Potassium Channels.
Abbott GW
Frontiers in Physiology, 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
Phosphatidylinositol 4,5-bisphosphate (PIP2) regulates KCNQ3 K+ channels by interacting with four cytoplasmic channel domains.
Choveau FS et al.
The Journal of Biological Chemistry, 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
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
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
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Mousavi Nik A et al.
Frontiers in Cellular Neuroscience, 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
A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation.
Coyan FC et al.
Plos One, 2014
Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.
Bostan O et al.
Pediatric Cardiology, 2013
KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein.
Meisel E et al.
The Journal of Biological Chemistry, 2012
Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.
Couderc JP et al.
Journal of the American Heart Association, 2012
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
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
Channelopathies linked to plasma membrane phosphoinositides.
Logothetis DE et al.
Pflugers Archiv : European Journal of Physiology, 2010
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
Itoh H et al.
Circulation. Arrhythmia and Electrophysiology, 2009
Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function.
Li W et al.
Biochemical and Biophysical Research Communications, 2009
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.
Shamgar L et al.
Plos One, 2008
Kv7.1 (KCNQ1) properties and channelopathies.
Peroz D et al.
The Journal of Physiology, 2008
Genetic polymorphisms and arrhythmia susceptibility.
Makita N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
KCNQ1 K+ channel-mediated cardiac channelopathies.
Loussouarn G et al.
Methods in Molecular Biology (clifton, N.j.), 2006
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
Wilson AJ et al.
Cardiovascular Research, 2005
In vitro molecular interactions and distribution of KCNE family with KCNQ1 in the human heart.
Bendahhou S et al.
Cardiovascular Research, 2005
Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome.
Park KH et al.
Circulation Research, 2005
Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
Kobori A et al.
Journal of Cardiovascular Electrophysiology, 2004
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
Huang L et al.
Cardiovascular Research, 2001
KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel.
Tinel N et al.
The Embo Journal, 2000
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000