Sana Nasim

This study identifies GNAQ R183Q mutation-induced endothelial barrier dysfunction in capillary malformations and shows that targeting MAPK signaling and ANGPT2 can restore barrier integrity.

This paper develops a mouse model expressing GNAQ p.R183Q in endothelial cells to study capillary malformation, showing it causes vascular malformations similar to human CM.

The paper identifies a SOX18-mevalonate pathway axis in infantile hemangioma and suggests repurposing statins as a treatment.

The paper compares morphological features of GNAQ p.R183Q-driven capillary malformations in brain and skin tissues to understand their pathogenesis and guide targeted therapies.