Joyce E. Bischoff

The paper identifies a novel de novo GABPA variant in a patient with unclassified vascular tumors, linking it to disrupted vascular development through structural and functional analyses.

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.

This study identifies a biophysical mechanism of SOX18/NR2F2 transcriptional antagonism that governs venous differentiation and shows that inhibiting SOX18 can improve vascular malformation symptoms.

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.

This study shows that deleting CD45 in endothelial cells reduces atherosclerosis by inhibiting EndoMT and TGFβ signaling through increased FGFR2 and KLF2 expression.

This study shows R(+) propranolol reduces lipid accumulation in hemangioma-derived stem cells in vitro and in a mouse model, without affecting adipogenic transcription factors.

This paper shows that PROX1 inhibits PDGF-B expression in heart valves to prevent myxomatous degeneration, and PDGF-B inhibition ameliorates valve defects in mice.

This paper reports the genomic profile of lymphatic malformations, identifies PIK3CA and NRAS mutations, and shows a response to the PI3K inhibitor alpelisib in a personalized trial.