In the past decade, single-cell technologies have proliferated and improved from their
technically challenging beginnings to become common laboratory methods capable of …

Cardiovascular disease is the leading cause of death globally. An advanced understanding
of cardiovascular disease mechanisms is required to improve therapeutic strategies and …

Pathogenic variants in genes that cause dilated cardiomyopathy (DCM) and arrhythmogenic
cardiomyopathy (ACM) convey high risks for the development of heart failure through …

Rare coding mutations cause∼ 45% of congenital heart disease (CHD). Noncoding
mutations that perturb cis-regulatory elements (CREs) likely contribute to the remaining …

Single-cell and spatial transcriptomics have diverted researchers' attention from the
multicellular level to the single-cell level and spatial information. Single-cell transcriptomes …

Background: ALPK3 encodes α-kinase 3, a muscle-specific protein of unknown function.
ALPK3 loss-of-function variants cause cardiomyopathy with distinctive clinical …

Myocardial fibrosis is a key pathologic feature of hypertrophic cardiomyopathy (HCM).
However, the fibrotic pathways activated by HCM-causing sarcomere protein gene …

Cardiac excitation-contraction coupling requires dyads, the nanoscopic microdomains
formed adjacent to Z-lines by apposition of transverse tubules and junctional sarcoplasmic …

Hypertrophic cardiomyopathy (HCM) is characterized by thickening of the left ventricular
wall, diastolic dysfunction, and fibrosis, and is associated with mutations in genes encoding …

Single nuclei RNA-sequencing (sNuc-Seq) is a methodology which uses isolated nuclei
instead of whole cells to profile gene expression. By using droplet microfluidic technologies …