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Article

Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.

Birth defects research - 2 Oct 2017

Fazio Grazia, Bettini Laura Rachele, Rigamonti Silvia, Meta Dorela, Biondi Andrea, Cazzaniga Giovanni, Selicorni Angelo, Massa Valentina

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting the neurodevelopment, gastrointestinal, musculoskeletal systems. CdLS is caused by mutations within NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation. The aim of this study was to investigate retinoic acid (RA)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28752682
DOI: 10.1002/bdr2.1070

Genes

NIPBL
CRABP1
CRABP2
HDAC8
RAD21
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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