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Article

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

Scientific reports - 19 Nov 2015

Mannini Linda, C Lamaze Fabien, Cucco Francesco, Amato Clelia, Quarantotti Valentina, Rizzo Ilaria M, Krantz Ian D, Bilodeau Steve, Musio Antonio

Abstract excerpt

In addition to its role in sister chromatid cohesion, genome stability and integrity, the cohesin complex is involved in gene transcription. Mutations in core cohesin subunits SMC1A, SMC3 and RAD21, or their regulators NIPBL and HDAC8, cause Cornelia de Lange syndrome (CdLS). Recent evidence reveals that gene expression dysregulation could be the underlying mechanism for CdLS. These findings raise intriguing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26581180
DOI: 10.1038/srep16803
PMCID: PMC4652179

Genes

HDAC8
NIPBL
RAD21
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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