< em > SOX17 < /em > Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension

CONCLUSIONS: Common PAH risk variants upstream of the SOX17 promoter reduce endothelial SOX17 expression, at least in part, through differential binding of HOXA5 and ROR-α. Reduced SOX17 expression results in disturbed hPAEC function and PAH. Existing drug compounds can reverse the disturbed SOX17 pulmonary endothelial transcriptomic signature.PMID:37066790 | DOI:10.1161/CIRCULATIONAHA.122.061940

Source: Circulation - April 17, 2023 Category: Cardiology Authors: Rachel Walters Eleni Vasilaki Jurjan Aman Chien-Nien Chen Yukyee Wu Olin D Liang Ali Ashek Olivier Dubois Lin Zhao Farah Sabrin In ês Cebola Jorge Ferrer Nicholas W Morrell James R Klinger Martin R Wilkins Lan Zhao Christopher J Rhodes Source Type: research