Beyond the one gene–one disease paradigm: complex genetics and pleiotropy in inheritable cardiac disorders

M Cerrone, CA Remme, R Tadros, CR Bezzina… - Circulation, 2019 - Am Heart Assoc
Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are
often associated with increased risk of sudden death in the young. Early linkage analysis …

RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome

N Belbachir, V Portero, ZR Al Sayed… - European Heart …, 2019 - academic.oup.com
Abstract Aims The Brugada syndrome (BrS) is an inherited cardiac disorder predisposing to
ventricular arrhythmias. Despite considerable efforts, its genetic basis and cellular …

Transcriptional and epigenetic regulation of cardiac electrophysiology

J Jimenez, SL Rentschler - Pediatric Cardiology, 2019 - Springer
Spatiotemporal gene expression during cardiac development is a highly regulated process.
Activation of key signaling pathways involved in electrophysiological programming, such as …

Genetic susceptibility and the Brugada syndrome

ER Behr - European Heart Journal, 2019 - academic.oup.com
The genetic basis of the Brugada syndrome (BrS) has attracted much interest since the first
successful foray by Chen et al. in 1999. They discovered 'mutations'(or 'rare pathogenic …

Notch 信号通路相关性心律失常研究进展.

王宁, 张桢烨, 彭夏锋, 王如兴 - Journal of Practical …, 2019 - search.ebscohost.com
notch 信号通路是通过细胞间相互作用来调节生物体生长发育的一个十分保守的信号通路.
胚胎发生时期, notch 信号通路参与编程从心脏结构到心脏电生理特性等多个过程 …

Regional differences in the expression of tetrodotoxin-sensitive inward Ca2+ and outward Cs+/K+ currents in mouse and human ventricles

W Wang, RL Mellor, JM Nerbonne, CW Balke - Channels, 2019 - Taylor & Francis
Tetrodotoxin (TTX) sensitive inward Ca2+ currents, I Ca (TTX), have been identified in
cardiac myocytes from several species, although it is unclear if I Ca (TTX) is expressed in all …

Conflict of interest: none declared.

M Szybowska, CF Morel, S Bowdin, J Garcia, M Care… - academic.oup.com
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RRAD as a cause of BrS is a family-specific finding until there is more robust validation in other …