One of the obstacles in studying the pathogenesis of hypertrophic cardiomyopathy (HCM) is
the poor availability of myocardial tissue samples at the early stages of disease …

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy
worldwide, affecting approximately 1 in 500 individuals. Current therapeutic interventions …

Noonan syndrome (NS), the most common among RASopathies, is caused by germline
variants in genes encoding components of the RAS-MAPK pathway. Distinct variants …

To better understand sodium channel (SCN5A)-related cardiomyopathies, we generated
ventricular cardiomyocytes from induced pluripotent stem cells obtained from a dilated …

Hypertrophic cardiomyopathy (HCM) is a very common inherited cardiovascular disease
(CAD) and the incidence is about 1/500 of the common population. It is caused by more than …

Hypertrophic cardiomyopathy (HCM) is often caused by single sarcomeric gene mutations
that affect muscle contraction. Pharmacological correction of mutation effects prevents but …

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 …

Missense variant Ile79Asn in human cardiac troponin T (cTnT-I79N) has been associated
with hypertrophic cardiomyopathy and sudden cardiac arrest in juveniles. cTnT-I79N is …

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 …

Introduction: The development of patient-specific induced pluripotent stem cell-derived
cardiomyocytes (iPSC-CMs) offers an opportunity to study genotype-phenotype correlation …