Associated Papers
Feedback from the Nascent Chain Triggers Ribosomal Frameshifting and Transcript Decay.
Carmody PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.
Zhong L et al.
Circulation Research, 2024
Electro-mechanical coupling of KCNQ channels is a target of epilepsy-associated mutations and retigabine.
Yang ND et al.
Science Advances, 2022
Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277.
Willegems K et al.
Nature Communications, 2022
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
Cócera-Ortega L et al.
International Journal of Molecular Sciences, 2022
A benzodiazepine activator locks Kv7.1 channels open by electro-mechanical uncoupling.
Schreiber JA et al.
Communications Biology, 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
A PIP2 substitute mediates voltage sensor-pore coupling in KCNQ activation.
Liu Y et al.
Communications Biology, 2020
Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.
Hou P et al.
Nature Communications, 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
Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.
Matsuda S et al.
Human Genome Variation, 2020
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families.
Amirian A et al.
Journal of Arrhythmia, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Cui J
Biophysical Journal, 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
Regulation of Voltage-Activated K(+) Channel Gating by Transmembrane β Subunits.
Sun X et al.
Frontiers in Pharmacology, 2012
The rate-dependent biophysical properties of the LQT1 H258R mutant are counteracted by a dominant negative effect on channel trafficking.
Labro AJ et al.
Journal of Molecular and Cellular Cardiology, 2010
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
Structural determinants of potassium channel blockade and drug-induced arrhythmias.
Wehrens XH
Handbook of Experimental Pharmacology, 2006
Inherited and acquired vulnerability to ventricular arrhythmias: cardiac Na+ and K+ channels.
Clancy CE et al.
Physiological Reviews, 2005
Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels.
Seebohm G et al.
Circulation Research, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.
Sanguinetti MC
Journal of Cardiovascular Electrophysiology, 2000
Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.
Franqueza L et al.
The Journal of Biological Chemistry, 1999