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Article

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

PLoS biology - 1 Oct 2011

Muto Akihiko, Calof Anne L, Lander Arthur D, Schilling Thomas F

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is the founding member of a class of multi-organ system birth defect syndromes termed cohesinopathies, named for the chromatin-associated protein complex cohesin, which mediates sister chromatid cohesion. Most cases of CdLS are caused by haploinsufficiency for Nipped-B-like (Nipbl), a highly conserved protein that facilitates cohesin loading. Consistent with recent evidence...

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Identifiers

PMID: 22039349
DOI: 10.1371/journal.pbio.1001181
PMCID: PMC3201921

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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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Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.PMID 22039349Read ↗

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

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Interaction between long-range chromatin regulators <i>Nipbl</i> & <i>Isl1</i> synergistically drives heart defects in miceSemantic proximity Read ↗

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

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

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