Articles with "nipbl scc2" as a keyword



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Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

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Published in 2021 at "Nature Communications"

DOI: 10.1038/s41467-021-24808-z

Abstract: Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients.… read more here.

Keywords: genome wide; lange syndrome; cohesin; nipbl scc2 ... See more keywords