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

doi:10.1038/s41598-018-19173-9

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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...

Topics

Biomarkers
Cell Cycle Proteins
Cell Differentiation
Computational Biology
De Lange Syndrome
Gene Expression Profiling
Gene Expression Regulation
Genetic Predisposition to Disease
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haploinsufficiency

Heart Defects, Congenital

Humans

Induced Pluripotent Stem Cells

Myoblasts, Cardiac

Myocytes, Cardiac

Pluripotent Stem Cells

Proteins

Transcriptome

Source

Open in PubMed Open full text

Identifiers

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

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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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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