Phosphoinositide 3-kinase (PI3K) activity is stimulated by diverse oncogenes and growth
factor receptors, and elevated PI3K signaling is considered a hallmark of cancer. Many PI3K …

Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal
naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic …

METHODS: Treatment consisted of a continuous dosing schedule of oral sirolimus starting at
0.8 mg/m 2 per dose twice daily, with pharmacokinetic-guided target serum trough levels of …

Abstract Phosphatidylinositol 3-kinases (PI3Ks) are crucial coordinators of intracellular
signalling in response to extracellular stimuli. Hyperactivation of PI3K signalling cascades is …

The Central Role of PI3K in Cell Signaling Phosphatidylinositol 3-kinase (PI3K) is involved
in multiple cell processes, including insulin signaling, cell growth, immunity, and brain …

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …

Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

Objectives To test the hypothesis that somatic phosphatidylinositol-4, 5-bisphospate 3-
kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more …