Article
Mutations in EPHB4 cause human venous valve aplasia.
JCI insight - 22 Sept 2021
Lyons Oliver, Walker James, Seet Christopher, Ikram Mohammed, Kuchta Adam, Arnold Andrew, Hernández-Vásquez Magda, Frye Maike, Vizcay-Barrena Gema, Fleck Roland A, Patel Ashish S, Padayachee Soundrie, Mortimer Peter, Jeffery Steve, Berland Siren, Mansour Sahar, Ostergaard Pia, Makinen Taija, Modarai Bijan, Saha Prakash, Smith Alberto
Abstract excerpt
Venous valve (VV) failure causes chronic venous insufficiency, but the molecular regulation of valve development is poorly understood. A primary lymphatic anomaly, caused by mutations in the receptor tyrosine kinase EPHB4, was recently described, with these patients also presenting with venous insufficiency. Whether the venous anomalies are the result of an effect on VVs is not known. VV formation requires...
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