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Article

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

PLoS genetics - 1 Feb 2014

Zuin Jessica, Franke Vedran, van Ijcken Wilfred F J, van der Sloot Antoine, Krantz Ian D, van der Reijden Michael I J A, Nakato Ryuichiro, Lenhard Boris, Wendt Kerstin S

Abstract excerpt

The cohesin complex is crucial for chromosome segregation during mitosis and has recently also been implicated in transcriptional regulation and chromatin architecture. The NIPBL protein is required for the loading of cohesin onto chromatin, but how and where cohesin is loaded in vertebrate cells is unclear. Heterozygous mutations of NIPBL were found in 50% of the cases of Cornelia de Lange Syndrome (CdLS), a...

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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: 24550742
DOI: 10.1371/journal.pgen.1004153
PMCID: PMC3923681

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.PMID 24550742Read ↗

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

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

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.Semantic proximity Read ↗

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

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

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

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

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

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.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 ↗

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic proximity Read ↗

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