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Article

The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency.

PLoS biology - 1 Sept 2016

Gelb Bruce D

Abstract excerpt

Congenital heart defects (CHDs) affect 2%-3% of newborns and remain challenging clinically. There is an ongoing project to elucidate the causes of CHDs, focusing primarily on genetics as dictated by the epidemiology. In a paper published in this issue, Santos and colleagues describe studies of Cornelia de Lange syndrome-associated secundum atrial septal defects (ASDs) caused by NIPBL mutations, undertaken with a...

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Source

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Identifiers

PMID: 27606622
DOI: 10.1371/journal.pbio.2000494
PMCID: PMC5015829

Genes

NIPBL

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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The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency.PMID 27606622Read ↗

Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.Semantic proximity Read ↗

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

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

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

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

Gastrulation-stage gene expression in <i>Nipbl</i> <sup>+/-</sup> mouse embryos foreshadows the development of syndromic birth defectsSemantic proximity Read ↗

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

Defining the Fetal Gene Program at Single-Cell Resolution in Pediatric Dilated CardiomyopathySemantic proximity Read ↗

Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening.Semantic proximity Read ↗

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

Collateral damage: Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programmeSemantic proximity Read ↗

TGFβ−induced embryonic cell senescence at the origin of the Cornelia de Lange syndromeSemantic proximity Read ↗

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