The Zebrafish has emerged to become a powerful vertebrate animal model for
cardiovascular research in recent years. Its advantages include easy genetic manipulation …

Degenerative mitral regurgitation is a major threat to public health and affects at least 24
million people worldwide, with an estimated 0.88 million disability-adjusted life years and …

Ethanolamine phosphotransferase (EPT) 1, also known as selenoprotein 1 (SELENOI), is an
enzyme that transfers phosphoethanolamine from cytidine diphosphate-ethanolamine to …

DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to
unwind RNA secondary structures. Here we identified six different de novo missense …

Degenerative mitral valve disease causing mitral valve prolapse is the most common cause
of primary mitral regurgitation, with two distinct phenotypes generally recognized with some …

Valvular heart disease is observed in approximately 2% of the general population. Although
the initial observation is often localized (for example, to the aortic or mitral valve), disease …

The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary
clearance in the respiratory system, laterality defects including heart malformations, infertility …

Objective To evaluate comprehensively, using chromosomal microarray analysis (CMA) and
exome sequencing (ES), the prevalence of chromosomal abnormalities and sequence …

Cardiomyopathies and valvular heart diseases are typically considered distinct diagnostic
categories with dedicated guidelines for their management. However, the interplay between …

Phosphatidic acid (PA) is a simple glycerophospholipid with a well-established role as an
intermediate in phospholipid biosynthesis. In addition to its role in lipid biosynthesis, PA has …