Article

Cornelia-de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

2019-05-09

Abstract excerpt

<h4>Summary</h4> Cornelia de Lange Syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a residue substitution in BRD4 associated with a Cornelia de Lange-like syndrome, that reduces BRD4 binding to acetylated h...

Topics

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

Identifiers and source

Literature Corpus work: 4b741d10-0034-5fbf-9639-fefd779dab4f
DOI: 10.1101/632992

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cornelia-de Lange syndrome-associated mutations cause a DNA damage signalling and repair defectDOI 10.1101/632992Read

Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.Semantic proximity Read

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

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromesSemantic proximity Read

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.Semantic proximity Read

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.Semantic proximity Read

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.Semantic proximity Read

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

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic proximity Read

Co-Essentiality Analysis Identifies PRR12 as a Regulator of Cohesin and Genome IntegritySemantic proximity Read

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

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.Semantic proximity Read