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Article

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.

Human molecular genetics - 15 Oct 2013

Nolen Leisha D, Boyle Shelagh, Ansari Morad, Pritchard Emily, Bickmore Wendy A

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a developmental disorder caused by mutations in NIPBL, a protein which has functionally been associated with the cohesin complex. Mutations in core cohesin complex components have also been reported in individuals with CdLS-like phenotypes. In addition to its role in sister chromatid cohesion, cohesin is thought to play a role in regulating gene expression during development....

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Share to CCCTC-Binding Factor
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomal Proteins, Non-Histone

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Source

Open in PubMed Open full text

Identifiers

PMID: 23760082
DOI: 10.1093/hmg/ddt265
PMCID: PMC3781641

Genes

NIPBL
CTCF
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.PMID 23760082Read ↗

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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 ↗

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