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Article

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

PLoS genetics - 1 Sept 2009

Kawauchi Shimako, Calof Anne L, Santos Rosaysela, Lopez-Burks Martha E, Young Clint M, Hoang Michelle P, Chua Abigail, Lao Taotao, Lechner Mark S, Daniel Jeremy A, Nussenzweig Andre, Kitzes Leonard, Yokomori Kyoko, Hallgrimsson Benedikt, Lander Arthur D

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL gene. In animals and fungi, orthologs of NIPBL regulate cohesin, a complex of proteins that is essential for chromosome cohesion and is also implicated in DNA repair and transcriptional regulation. Mice heterozygous for a gene-trap mutation in Nipbl were...

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Identifiers

PMID: 19763162
DOI: 10.1371/journal.pgen.1000650
PMCID: PMC2730539

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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Click a neighbor to travelStep 1 · 12 closest

Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.PMID 19763162Read ↗

Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.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 ↗

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.Semantic proximity Read ↗

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Semantic proximity Read ↗

Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/- embryos.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 ↗

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.Semantic proximity Read ↗

Nipbl and mediator cooperatively regulate gene expression to control limb development.Semantic proximity Read ↗

Gastrulation-stage gene expression in Nipbl+/- mouse embryos foreshadows the development of syndromic birth defects.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.Semantic proximity Read ↗

Decreasing <i>Wapl</i> dosage partially corrects transcriptome phenotypes in <i>Nipbl</i> -/+ embryonic mouse brainSemantic proximity Read ↗

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