Cancer cachexia is a syndrome of progressive weight loss and muscle wasting occurring in
many advanced cancer patients. Cachexia significantly impairs quality of life and increases …

Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel
autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy …

The human mutant cardiac α-actins p. A295S or p. R312H and p. E361G, correlated with
hypertrophic or dilated cardiomyopathy, respectively, were expressed by the …

The titin gene (TTN) is associated with several diseases, including inherited arrhythmias.
Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but …

In the last decade, an incredible improvement has been made in elucidating the genetic
bases of cardiomyopathies. Here we report the impact of either the European Society of …

Background: Immune targeted therapy has become an attractive therapeutic approach for
patients with dilated cardiomyopathy (DCM) recently. Genetic predisposition and gender …

SCN5A mutations have been reported to cause various cardiomyopathies in humans. Most
of the SCN5A mutations causes loss of function and thereby, alters the overall cellular …

Background Hereditary cardiovascular diseases comprise several different entities. In this
study, we focused on cardiomyopathies (ie, hypertrophic, dilated, arrhythmogenic, and left …

Abstract Background Inherited cardiomyopathies (HCM, DCM, ACM) and cardiac ion
channelopathies (long QT/Brugada syndromes, CPVT) are associated with significant …

Background ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a
transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all …