Annegret Holm

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 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.

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.