A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
Mark E. Curran,Igor Splawski,Katherine W. Timothy,Vincent Gm,Eric D. Green,Keating Mt,Keating Mt +6 more
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TL;DR: In this article, the authors investigated patients with long QT syndrome (LQT), an inherited disorder causing sudden death from a ventricular tachyarrythmia, torsade de pointes.
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About: This article is published in Cell. The article was published on 10 Mar 1995. and is currently open access. The article focuses on the topics: hERG & KCNE2.
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Citations
Inherited cardiac arrhythmias.
Peter J. Schwartz,Michael J. Ackerman,Charles Antzelevitch,Charles Antzelevitch,Connie R. Bezzina,Martin Borggrefe,Bettina F. Cuneo,Arthur A.M. Wilde,Arthur A.M. Wilde +8 more
- 16 Jul 2020
TL;DR: Future research should focus on the identification of genes associated with the diseases and other risk factors, improved risk stratification and, in particular for Brugada syndrome, effective therapies.
204
Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing
TL;DR: In this large cohort of unrelated patients referred for LQTS genetic testing, the clinical phenotype strongly correlated with the likelihood of elucidating a pathogenic mutation with the cardiac channel gene screen.
202
Drosophila, an emerging model for cardiac disease.
Ethan Bier,Rolf Bodmer +1 more
TL;DR: Drosophila will be critical for examining gene networks involved in organogenesis and is clearly the system of choice for studying cardiac development, function and aging, since among the simple genetic models it is the only one with a fluid pumping heart.
199
Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.
Michiko Furutani,Matthew C. Trudeau,Nobuhisa Hagiwara,Akiko Seki,Qiuming Gong,Zhengfeng Zhou,Shin Ichiro Imamura,Hirotaka Nagashima,Hiroshi Kasanuki,Atsuyoshi Takao,Kazuo Momma,Craig T. January,Gail A. Robertson,Rumiko Matsuoka +13 more
TL;DR: The results from both the Xenopus oocyte and HEK293 cell expression systems and green fluorescent protein tagging and Western blot analyses support the conclusion that the G601S mutant is a hypomorphic mutation, resulting in a reduced current amplitude, which represents a novel mechanism underlying LQT2.
199
Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels.
TL;DR: Findings suggest that positioning of S6 aromatic residues relative to the central cavity of the channel, not inactivation per se determines drug block of HERG or eag channels.
197
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