Article

Partial rescue of neuronal genes deregulated in Cornelia de Lange Syndrome by cohesin

2020-06-06

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, a major regulator of 3D genome organization. Cognitive impairment is a universal and as yet unexplained feature of CdLS. We characterized the transcriptional profile of cortical neurons from CdLS patients and found deregulation of hundreds of genes enriched for neuronal functions related...

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Literature Corpus work: b8bb80b3-60a6-5842-8350-c53fb841ec69
DOI: 10.1101/2020.06.06.136432

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