Associated Papers
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38370760 (PubMed )
Supplement: media-2.xlsx › Table_S2
Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.
Park NK et al.
Human Molecular Genetics, 2024
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
36277779 (PubMed )
Supplement: Data_Sheet_1.pdf
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.
Gong Q et al.
Gene, 2014
LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.
Stump MR et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2013
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Select a paper to view details