Article
Human venous valve disease caused by mutations in FOXC2 and GJC2.
The Journal of experimental medicine - 7 Aug 2017
Lyons Oliver, Saha Prakash, Seet Christopher, Kuchta Adam, Arnold Andrew, Grover Steven, Rashbrook Victoria, Sabine Amélie, Vizcay-Barrena Gema, Patel Ash, Ludwinski Francesca, Padayachee Soundrie, Kume Tsutomu, Kwak Brenda R, Brice Glen, Mansour Sahar, Ostergaard Pia, Mortimer Peter, Jeffery Steve, Brown Nigel, Makinen Taija, Petrova Tatiana V, Modarai Bijan, Smith Alberto
Abstract excerpt
Venous valves (VVs) prevent venous hypertension and ulceration. We report that FOXC2 and GJC2 mutations are associated with reduced VV number and length. In mice, early VV formation is marked by elongation and reorientation ("organization") of Prox1hi endothelial cells by postnatal day 0. The expression of the transcription factors Foxc2 and Nfatc1 and the gap junction proteins Gjc2, Gja1, and Gja4 were...
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