Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell
growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a …

Inherited monogenic disease has an enormous impact on the well-being of children and
their families. Over half of the children living with one of these conditions are without a …

Major depression (MDE) has metabolic and neuroendocrine correlates, which point to a
biological overlap between MDE and cardiovascular diseases. Whereas the hypothalamic …

Genes causing rare heritable childhood diseases are being discovered at an accelerating
pace driven by the decreasing cost and increasing accessibility of next-generation DNA …

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) is a recently
delineated, autosomal recessive condition caused by rare mutations in the N …

Background SHORT syndrome is a rare autosomal dominant condition whose name is the
acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and …

SHORT syndrome (OMIM 269880) is a rare autosomal‐dominant disorder characterized by
short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies …

Physical inactivity is a major public health problem in developed countries, and the fourth
leading mortality risk factor globally. Recently, it was suggested that the total energy …