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
Long QT syndrome type 1: clinical and functional characterization of KCNQ1 variant c.1111G > C.
Bileisiene N et al.
Bmc Cardiovascular Disorders, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
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
The Crossroad of Ion Channels and Calmodulin in Disease.
Urrutia J et al.
International Journal of Molecular Sciences, 2019
Calcium/calmodulin-dependent protein kinase II regulation of IKs during sustained β-adrenergic receptor stimulation.
Shugg T et al.
Heart Rhythm, 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
29444113 (PubMed )
Supplement: pone.0191905.s001.pdf
Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.
Zheng R et al.
The Biochemical Journal, 2010
An inactivation gate in the selectivity filter of KCNQ1 potassium channels.
Gibor G et al.
Biophysical Journal, 2007
Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.
Shamgar L et al.
Circulation Research, 2006
Cardiac retention of [11C]HED in genotyped long QT patients: a potential amplifier role for severity of the disease.
Mazzadi AN et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
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