Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …

Human-induced pluripotent stem cells (hiPSC) can be differentiated to cardiomyocytes at
high efficiency and are increasingly used to study cardiac disease in a human context. This …

The utility of human pluripotent stem cell–derived kidney organoids relies implicitly on the
robustness and transferability of the protocol. Here we analyze the sources of transcriptional …

Aims The aim of this study was to determine the frequency of heterozygous truncating
ALPK3 variants (ALPK3 tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm …

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

Human mitochondrial disorders impact tissues with high energetic demands and can be
associated with cardiac muscle disease (cardiomyopathy) and early mortality. However, the …

In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …

Discrete categorization of Mendelian disease genes into dominant and recessive models
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …

Cardiovascular disease (CVD) continues to impose a significant global health burden,
necessitating the exploration of innovative treatment strategies. Ribonucleic acid (RNA) …

Technical advances in generating and phenoty** cardiomyocytes from human pluripotent
stem cells (hPSC-CMs) are now driving their wider acceptance as in vitro models to …