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Article

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

Scientific reports - 18 Jan 2018

Mills Jason A, Herrera Pamela S, Kaur Maninder, Leo Lanfranco, McEldrew Deborah, Tintos-Hernandez Jesus A, Rajagopalan Ramakrishnan, Gagne Alyssa, Zhang Zhe, Ortiz-Gonzalez Xilma R, Krantz Ian D

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orchestration of transcriptomic regulatory networks necessary for embryonic development. Mutations in NIPBL are...

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Identifiers

PMID: 29348408
DOI: 10.1038/s41598-018-19173-9
PMCID: PMC5773608

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→

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NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.PMID 29348408Read ↗

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 ↗

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

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 ↗

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

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

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

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

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic proximity Read ↗

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

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

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