The lymphatic vascular system is gaining recognition for its multifaceted role and broad
pathological significance. Once perceived as a mere conduit for interstitial fluid and immune …

The RASopathies are a group of clinically defined developmental syndromes caused by
germline variants of the RAS/mitogen‐activated protein (MAPK) cascade. The prototypic …

Somatic activating mutations of PIK3CA are associated with development of vascular
malformations (VMs). Here, we describe a microfluidic model of PIK3CA-driven VMs …

Phosphoinositide 3-kinases (PI3Ks) phosphorylate intracellular inositol lipids to regulate
signaling and intracellular vesicular trafficking. Mammals have eight PI3K isoforms, of which …

Recent advances in genetic sequencing are transforming our approach to rare-disease
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …

PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …

Cerebral cavernous malformations (CCMs) are abnormally dilated intracranial capillaries
that form cerebrovascular lesions with a high risk of hemorrhagic stroke. Recently, several …

Vascular malformations are anomalies in vascular development that portend a significant
risk of hemorrhage, morbidity and mortality. Conventional treatments with surgery …

Capillary malformations (CM)(port-wine stains) are congenital skin lesions that are
characterized by dilated capillaries and postcapillary venules. CMs are caused by altered …

Molecular characterization of vascular anomalies has revealed that affected endothelial
cells (ECs) harbor gain-of-function (GOF) mutations in the gene encoding the catalytic α …