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Article

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.

Cell death & disease - 17 Oct 2013

Pistocchi A, Fazio G, Cereda A, Ferrari L, Bettini L R, Messina G, Cotelli F, Biondi A, Selicorni A, Massa V

Abstract excerpt

Cornelia de Lange Syndrome is a severe genetic disorder characterized by malformations affecting multiple systems, with a common feature of severe mental retardation. Genetic variants within four genes (NIPBL (Nipped-B-like), SMC1A, SMC3, and HDAC8) are believed to be responsible for the majority of cases; all these genes encode proteins that are part of the 'cohesin complex'. Cohesins exhibit two temporally...

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Source

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Identifiers

PMID: 24136230
DOI: 10.1038/cddis.2013.371
PMCID: PMC3824680

Genes

NIPBL
CCND1
HDAC8
SMC3

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.

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

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

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