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Article

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

PLoS genetics - 1 Dec 2017

Zuin Jessica, Casa Valentina, Pozojevic Jelena, Kolovos Petros, van den Hout Mirjam C G N, van Ijcken Wilfred F J, Parenti Ilaria, Braunholz Diana, Baron Yorann, Watrin Erwan, Kaiser Frank J, Wendt Kerstin S

Abstract excerpt

Cohesin is crucial for genome stability, cell division, transcription and chromatin organization. Its functions critically depend on NIPBL, the cohesin-loader protein that is found to be mutated in >60% of the cases of Cornelia de Lange syndrome (CdLS). Other mutations are described in the cohesin subunits SMC1A, RAD21, SMC3 and the HDAC8 protein. In 25-30% of CdLS cases no mutation in the known CdLS genes is...

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Share to Chromosomal Proteins, Non-Histone
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohesins

Share to De Lange Syndrome

Share to Enhancer Elements, Genetic

Share to HEK293 Cells

Share to Oligonucleotides, Antisense

Share to RNA, Long Noncoding

Source

Open in PubMed Open full text

Identifiers

PMID: 29261648
DOI: 10.1371/journal.pgen.1007137
PMCID: PMC5754091

Genes

NIPBL
HDAC8
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.

Related research

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Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.PMID 29261648Read ↗

Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulationSemantic proximity Read ↗

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

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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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