Article

The effect of Nipped-B-Like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange Syndrome

2017-05-05

Abstract excerpt

<h4>ABSTRACT</h4> Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like ( NIPBL ), the human homolog of Drosophila Nipped-B . NIPBL loads cohesin onto chromatin. Cohesin mediates sister chromatid cohesion important for mitosis, but is also increasingly recognized as a regulator of gene expression. In CdLS pa...

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Literature Corpus work: 8db3e643-ba5d-523e-85b3-da95cbb9d63d
DOI: 10.1101/134825

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