Article

NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity

2025-06-20

Abstract excerpt

<h4>ABSTRACT</h4> Congenital heart defects (CHD) occur in ∼1% of live births, with inherited and acquired mutations and environmental factors contributing to causation. However, network perturbations in CHD remain poorly understood. We report an integrated functional-epigenomics approach to CHD, focusing on the cardiac homeodomain (HD) transcription factor NKX2-5, mutations which cause diverse heart structural an...

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Literature Corpus work: e0898dfd-d82d-5d02-b347-faf646722eba
DOI: 10.1101/2025.06.20.659510

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