Ontology highlight
ABSTRACT:
SUBMITTER: Lapinski PE
PROVIDER: S-EPMC5490778 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Lapinski Philip E PE Lubeck Beth A BA Chen Di D Doosti Abbas A Zawieja Scott D SD Davis Michael J MJ King Philip D PD
The Journal of clinical investigation 20170522 7
Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. How RASA1 mutations lead to the LV leakage defects that occur in CM-AVM is not understood. Here, we report that disruption of the Rasa1 gene in adult mice resulted in loss of LV endothelial cells (LECs) specifically from the leafle ...[more]