Vikkula, MiikkaQueisser, AngelaDitu, Diana-VanessaDiana-VanessaDitu2025Vascular malformations are localised defects characterized by abnormal blood vessel development and function. The malformations we studied are caused either by activating mutations affecting the receptor tyrosine kinase TIE2 and/or the catalytic subunit α of phosphatidylinositol-4,5-bisphosphate 3-kinase (PIK3CA) in vascular ECs, or by loss-of-function mutations in the regulatory subunit 1 of phosphatidylinositol 3-kinase (PIK3R1), leading to a constitutive activation of the PI3K/AKT/mTOR pathway. Preliminary data from a RNAseq study in the host laboratory, and further characterization of patient-derived ECs indicated the activation of additional signaling pathways. These pathways could ultimately be connected and serve as novel targets for the treatment of patients with vascular anomalies.Vascular MalformationsSignaling PathwaysTIE2PI3K/AKT/mTORtext::thesis::master thesisthesis:49865