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Article

Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

Journal of proteome research - 7 Dec 2012

Gimigliano Anna, Mannini Linda, Bianchi Laura, Puglia Michele, Deardorff Matthew A, Menga Stefania, Krantz Ian D, Musio Antonio, Bini Luca

Abstract excerpt

Mutations in cohesin genes have been identified in Cornelia de Lange syndrome (CdLS), but its etiopathogenetic mechanisms are still poorly understood. To define biochemical pathways that are affected in CdLS, we analyzed the proteomic profile of CdLS cell lines carrying mutations in the core cohesin genes, SMC1A and SMC3. Dysregulated protein expression was found in CdLS probands compared to controls. The...

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Source

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Identifiers

PMID: 23106691
DOI: 10.1021/pr300760p
PMCID: PMC3519430

Genes

SMC3
MYC

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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