Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders,Molecular Genetics & Genomic Medicine

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Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-08-09 , DOI: 10.1002/mgg3.1782
Thomas Robert ₁ , Anne-Catherine Dock-Bregeon ₁ , Pierre Colas ₁

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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.

中文翻译：

导致严重发育障碍的 CDK10 和 cyclin M 截短变体的功能表征

CDK10 是一种鲜为人知的细胞周期蛋白 M (CycM) 依赖性激酶。编码 CycM 或 CDK10 的基因中的功能丧失突变分别导致 STAR 或 Al Kaissi 综合征，这些综合征呈现出一系列畸形和功能障碍。大多数报道的突变消除了基因表达，但在 3' 外显子中发现的两个突变可能允许 CDK10 和 CycM 截短变体的表达。

更新日期：2021-08-09

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