Associated Papers
High throughput screening identifies a trafficking corrector for long-QT syndrome associated KCNQ1 variants.
Clowes Moster KR et al.
Jci Insight, 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
High Throughput Screening Identifies a Small Molecule Trafficking Corrector for Long-QT Syndrome Associated KCNQ1 Variants.
Moster KRC 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
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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.
Miura A et al.
International Heart Journal, 2024
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.
Streeten EA et al.
Circulation. Genomic and Precision Medicine, 2020
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Kernik DC et al.
Plos Computational Biology, 2020
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2018
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H et al.
Science Advances, 2018
Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.
Coto E et al.
Epigenomics, 2017
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
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.
Partemi S et al.
International Journal of Legal Medicine, 2015
Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.
Eldstrom J et al.
The Journal of General Physiology, 2010
Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model.
Nishio H et al.
International Journal of Legal Medicine, 2009
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
Ackerman MJ et al.
Mayo Clinic Proceedings, 2003