Common and specific effects of TIE2 mutations causing venous malformations

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 am...

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Bibliographic Details
Published in:	Human molecular genetics Vol. 24; no. 22; pp. 6374 - 6389
Main Authors:	Nätynki, Marjut, Kangas, Jaakko, Miinalainen, Ilkka, Sormunen, Raija, Pietilä, Riikka, Soblet, Julie, Boon, Laurence M, Vikkula, Miikka, Limaye, Nisha, Eklund, Lauri
Format:	Journal Article
Language:	English
Published:	England Oxford University Press 15-11-2015
Subjects:	Amino Acid Substitution Animals Cell Movement - genetics Endothelial Cells - metabolism Female Fibrin Fibrinogen Degradation Products Human Umbilical Vein Endothelial Cells Humans Ligands Mice Mice, SCID Mutation Phosphorylation Receptor, TIE-2 - genetics Receptor, TIE-2 - metabolism Signal Transduction Spheroids, Cellular Vascular Malformations - enzymology Vascular Malformations - genetics
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