Genome-wide association studies have uncovered over a 100 genetic loci associated with
atrial fibrillation (AF), the most common arrhythmia. Many of the top AF-associated loci …

Haploinsufficiency of transcriptional regulators causes human congenital heart disease
(CHD); however, the underlying CHD gene regulatory network (GRN) imbalances are …

Cardiac electrical activity is governed by different ion channels that generate action
potentials. Acquired or inherited abnormalities in the expression and/or function of ion …

Background: The pathogenic missense variant p. G125R in TBX5 (T-box transcription factor
5) causes Holt–Oram syndrome (also known as hand–heart syndrome) and early onset of …

Background: Brugada syndrome (BrS) is an inherited arrhythmia syndrome caused by loss-
of-function variants in the cardiac sodium channel gene SCN5A (sodium voltage-gated …

The transmembrane sodium-calcium (Na-Ca) exchanger 1 (NCX1) regulates cytoplasmic
Ca levels by facilitating electrogenic exchange of Ca for Na. Palmitoylation, the only …

Atrial fibrillation (AF), defined by disorganized atrial cardiac rhythm, is the most prevalent
cardiac arrhythmia worldwide. Recent genetic studies have highlighted a major heritable …

Abstract Aims The transcription factor Tbx5 controls cardiogenesis and drives Scn5a
expression in mice. We have identified two variants in TBX5 encoding p. D111Y and p …

Understanding how the atrial and ventricular heart chambers maintain distinct identities is a
prerequisite for treating chamber-specific diseases. In this study, we selectively knocked out …

Catalyzed by zDHHC-PAT enzymes and reversed by thioesterases, protein palmitoylation is
the only post-translational modification recognized to regulate the sodium/calcium …