Clinical manifestations typical of mitochondrial diseases are often present in various genetic
syndromes associated with intellectual disability, a condition leading to deficit in cognitive …

Transposition of great arteries (TGA) is one of the most common and severe congenital heart
diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in …

Calcineurin, also known as PP2B or PPP3, is a member of the PPP family of protein
phosphatases that also includes PP1 and PP2A. Together these three phosphatases …

Atrioventricular septal defect (AVSD) is a clinically significant subtype of congenital heart
disease (CHD) that severely influences the health of babies during birth and is associated …

Congenital heart defects (CHD) are the most common congenital abnormality, with an
overall global birth prevalence of 9.41 per 1000 live births. The etiology of CHDs is complex …

CRELD2, a member of the cysteine-rich epidermal growth factor-like domain (CRELD)
protein family, is both an endoplasmic reticulum (ER)-resident protein and a secretory factor …

Abstract CRELD1 (Cysteine-Rich with EGF-Like Domains 1) is a risk gene for non-
syndromic atrioventricular septal defects in human patients. In a mouse model, Creld1 has …

Congenital heart defects (CHDs) have had an increasing prevalence over the last decades,
being one of the most common congenital defects. Their etiopathogenesis is multifactorial in …

The epidemiological studies have shown an increase of congenital heart diseases in the
industrial regions of the Russian Federation. The etiology and pathogenesis of most …

Abstract Background Congenital Heart diseases (CHDs) account for 1/3rd of all congenital
birth defects. Etiopathogenesis of CHDs remain elusive despite extensive investigations …