Article
Common and specific effects of TIE2 mutations causing venous malformations.
Human molecular genetics - 15 Nov 2015
Nätynki Marjut, Kangas Jaakko, Miinalainen Ilkka, Sormunen Raija, Pietilä Riikka, Soblet Julie, Boon Laurence M, Vikkula Miikka, Limaye Nisha, Eklund Lauri
Abstract excerpt
Venous malformations (VMs) are localized defects in vascular morphogenesis frequently caused by mutations in the gene for the endothelial tyrosine kinase receptor TIE2. Here, we report the analysis of a comprehensive collection of 22 TIE2 mutations identified in patients with VM, either as single amino acid substitutions or as double-mutations on the same allele. Using endothelial cell (EC) cultures, mouse models...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.