Back to search

Article

<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 NIPBL

2018-12-02

Abstract excerpt

<h4>ABSTRACT</h4> Cornelia de Lange syndrome (CdLS) is a rare developmental disorder caused by mutations in genes related to the cohesin complex. For its association with chromatin, cohesin depends on a heterodimer formed by NIPBL and MAU2, which interact via their respective N-termini. Variants in NIPBL are the main cause of CdLS and result in NIPBL haploinsufficiency. Using CRISPR, we generated cells homozyg...

Topics

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

Identifiers and source

Literature Corpus work
ab20dd7d-04be-5158-bc02-ff09c6039a76
DOI
10.1101/477752
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
<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 NIPBLDOI 10.1101/477752
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.Semantic proximity
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeSemantic proximity
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Semantic proximity
Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulationSemantic proximity
NIPBL 5'UTR Mutation: A Molecular Switch in Cohesin Complex- Related CdLSSemantic proximity
Clinical, <i>in vitro,</i> and <i>in vivo</i> evidence of <i>WAPL</i> as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorderSemantic proximity
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.Semantic proximity
Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionSemantic proximity
NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Semantic proximity
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.Semantic proximity
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity
Decreasing <i>Wapl</i> dosage partially corrects transcriptome phenotypes in <i>Nipbl</i> -/+ embryonic mouse brainSemantic proximity
Select a neighboring publication to make it the new centre.