Article
Constitutive, Mosaic Expression of TIE2 p.L914F During Mouse Development Causes Venous Malformation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 May 2026
Bischoff Lindsay J, Sherpa Chhiring, Schrenk Sandra, Boscolo Elisa
Abstract excerpt
The hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development and function, drives sporadic venous malformation (VM). While germline or early developmental expression of this mutation is thought to be lethal, mosaic or somatic expression is expected to result in VM disease. However, this has never been shown experimentally. Therefore, we utilized a genetic murine...
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