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Article

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

Human molecular genetics - 19 May 2022

Pallotta Maria M, Di Nardo Maddalena, Sarogni Patrizia, Krantz Ian D, Musio Antonio

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare multiorgan developmental disorder caused by pathogenic variants in cohesin genes. It is a genetically and clinically heterogeneous dominant (both autosomal and X-linked) rare disease. Increasing experimental evidence indicates that CdLS is caused by a combination of factors, such as gene expression dysregulation, accumulation of cellular damage and cellular aging, which...

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Identifiers

PMID: 34849865
DOI: 10.1093/hmg/ddab348
PMCID: PMC9122636

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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.

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