Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 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
Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.
Zhou H et al.
Cardiology in the Young, 2016
[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].
Zhou H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2015
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
A hydrophobicity-dependent motif responsible for surface expression of cardiac potassium channel.
Pan N et al.
Cellular Signalling, 2009
[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].
Li CL et al.
Zhonghua Nei Ke Za Zhi, 2007
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
Liu WL et al.
Zhonghua Nei Ke Za Zhi, 2006
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Liu WL et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2005
[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].
Li P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.
Liu W et al.
Chinese Medical Journal, 2003
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Liu W et al.
Human Mutation, 2002
A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.
Patoine D et al.
The Canadian Journal of Cardiology, 0