Fig. 10: Summary of molecular, cellular and tissue structural changes in the mouse model of BAV syndrome caused by the Sox17 inactivation in aortic root endothelium.
From: A SOX17-PDGFB signaling axis regulates aortic root development
A working model showing the SOX17 deficiency results in downregulated Pdgfb transcription in aortic root endothelium and reduced endothelial to mesenchymal PDGFB signaling that lead to cell proliferation and maturation defects in the developing aortic root. These defects cause complex aortic root malformations including BAV, hypoplastic aortic wall, as well as high takeoff left coronary ostium that lead to lethal coronary artery anomalies.
