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Article

Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.

Molecular genetics & genomic medicine - 1 Oct 2021

Robert Thomas, Dock-Bregeon Anne-Catherine, Colas Pierre

Abstract excerpt

BACKGROUND: CDK10 is a poorly known cyclin M (CycM)-dependent kinase. Loss-of-function mutations in the genes encoding CycM or CDK10 cause, respectively, STAR or Al Kaissi syndromes, which present a constellation of malformations and dysfunctions. Most reported mutations abolish gene expression, but two mutations found in 3' exons could allow the expression of CDK10 and CycM truncated variants. METHODS: We built...

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Identifiers

PMID: 34369103
DOI: 10.1002/mgg3.1782
PMCID: PMC8580092

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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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