Article
Characterization of ANGPT2 mutations associated with primary lymphedema.
Science translational medicine - 9 Sept 2020
Leppänen Veli-Matti, Brouillard Pascal, Korhonen Emilia A, Sipilä Tuomas, Jha Sawan Kumar, Revencu Nicole, Labarque Veerle, Fastré Elodie, Schlögel Matthieu, Ravoet Marie, Singer Amihood, Luzzatto Claudia, Angelone Donatella, Crichiutti Giovanni, D'Elia Angela, Kuurne Jaakko, Elamaa Harri, Koh Gou Young, Saharinen Pipsa, Vikkula Miikka, Alitalo Kari
Abstract excerpt
Primary lymphedema is caused by developmental and functional defects of the lymphatic vascular system that result in accumulation of protein-rich fluid in tissues, resulting in edema. The 28 currently known genes causing primary lymphedema can explain <30% of cases. Angiopoietin 1 (ANGPT1) and ANGPT2 function via the TIE1-TIE2 (tyrosine kinase with immunoglobulin-like and epidermal growth factor-like domains 1...
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