Publications by authors named "Jeffrey Drozd"
De novo variants affecting monoubiquitylation of histone H2B (H2Bub1) are enriched in human congenital heart disease. H2Bub1 is required in stem cell differentiation, cilia function, post-natal cardiomyocyte maturation and transcriptional elongation. However, how H2Bub1 affects cardiogenesis is unknown.
View Article and Find Full Text PDFArticle Synopsis
- * Researchers found an enrichment of loss-of-function mutations affecting H2Bub1 in CHD patients, particularly those with ciliary dysfunction and abnormal heart laterality.
- * Functional studies on Rnf20, Rnf40, and Ube2b demonstrated their synergistic roles in affecting heart asymmetry and cilia movement, suggesting that H2Bub1 is crucial for the expression of cilia genes and may serve as a transcriptional regulator linked to