Article

Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulation

2019-05-10

Abstract excerpt

<h4>ABSTRACT</h4> Cornelia de Lange syndrome (CdLS) is characterized by craniofacial dysmorphisms, intellectual disabilities, growth retardation, and several other systemic abnormalities. CdLS is caused by heterozygous germline mutations in structural and regulatory components of cohesin. Mutations in NIPBL , which encodes regulatory subunit of cohesin, are frequently found in individuals with CdLS. CdLS is asso...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a5bd3f9c-f92d-534f-9a7d-e2954636e8f6
DOI: 10.1101/616086

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulationDOI 10.1101/616086Read

<i>MAU2</i> and <i>NIPBL</i> variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBLSemantic proximity Read

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.Semantic proximity Read

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

NIPBL 5'UTR Mutation: A Molecular Switch in Cohesin Complex- Related CdLSSemantic proximity Read

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Semantic proximity Read

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.Semantic proximity Read

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Semantic proximity Read

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.Semantic proximity Read

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.Semantic proximity Read

The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.Semantic proximity Read

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Semantic proximity Read

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read