NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity
Alexander O. Ward, Nicole Schönrock, Alex J. McCann, Sabrina K. Phanor, Kian Hong Kock, Jesse V. Kurland, Fujian Wu, Nicholas J. Murray, James L. Walshe, Dimuthu Alankarage, Sally L. Dunwoodie, Frédéric A. Meunier, Mathias François, Martha L. Bulyk, Mirana Ramialison, Richard Paul Harvey
The paper investigates NKX2-5 mutations in congenital heart disease by analyzing their epigenomic, biochemical, and chromatin search functions in cardiomyocytes, revealing diverse loss and gain-of-function defects.
bioRxiv · Jun 20, 2025 · PreprintGenomics