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Article

Expanding the phenotypic spectrum for CDK8-related disease: A case report.

American journal of medical genetics. Part A - 1 May 2024

Comeau Dominique, Belliveau Jenna, Bouhamdani Nadia, Amor Mouna Ben

Abstract excerpt

BACKGROUND: Cyclin-dependent kinase 8 (CDK8) is part of a regulatory kinase module that regulates the activity of the Mediator complex. The Mediator, a large conformationally flexible protein complex, goes on to regulate RNA polymerase II activity, consequently affecting transcriptional regulation. Thus, inactivating mutations of the genes within the kinase module cause aberrant transcriptional regulation and...

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PMID: 38193604
DOI: 10.1002/ajmg.a.63537

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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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