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
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.
Toriyama K et al.
The Journal of Pathology, 2025
Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series.
van Bakel BMA et al.
Heartrhythm Case Reports, 2023
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM et al.
Circulation, 2022
Polyunsaturated fatty acids produce a range of activators for heterogeneous IKs channel dysfunction.
Bohannon BM et al.
The Journal of General Physiology, 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
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
The Crossroad of Ion Channels and Calmodulin in Disease.
Urrutia J et al.
International Journal of Molecular Sciences, 2019
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B et al.
Circulation. Cardiovascular Genetics, 2017
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B et al.
American Journal of Medical Genetics. Part A, 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
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
Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Kv7.1 (KCNQ1) properties and channelopathies.
Peroz D et al.
The Journal of Physiology, 2008
Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.
Shimizu W et al.
Journal of the American College of Cardiology, 2004
Mutation in KCNQ1 that has both recessive and dominant characteristics.
Murray A et al.
Journal of Medical Genetics, 2002
Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.
Kubota T et al.
Journal of Cardiovascular Electrophysiology, 2001
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
Chouabe C et al.
Cardiovascular Research, 2000
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.
Vyas B et al.
Indian Pacing and Electrophysiology Journal, 0
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Zafari Z et al.
Journal of Electrocardiology, 0