Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants

Cyclin-dependent kinase 8 (CDK8) is a member of the CDK/Cyclin module of the mediator complex. A recent study reported that heterozygous missense CDK8 mutations cause a neurodevelopmental disorder in humans. The mechanistic basis of CDK8-related disorder has yet to be delineated. Here, we report 2 p...

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Detalles Bibliográficos
Autores principales: Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Ishitani, Shizuka, Yoshihashi, Hiroshi, Okamoto, Nobuhiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Ishitani, Tohru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7567849/
https://www.ncbi.nlm.nih.gov/pubmed/33067521
http://dx.doi.org/10.1038/s41598-020-74642-4

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