Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells

Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics. Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 exhibits a variety of clinical manifestations, including immunological and hematological anomalies. In...

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Detalles Bibliográficos
Autores principales: Daimon, Etsuko, Shibukawa, Yukinao, Thanasegaran, Suganya, Yamazaki, Natsuko, Okamoto, Nobuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429552/
https://www.ncbi.nlm.nih.gov/pubmed/34504210
http://dx.doi.org/10.1038/s41598-021-97478-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429552/
https://www.ncbi.nlm.nih.gov/pubmed/34504210
http://dx.doi.org/10.1038/s41598-021-97478-y

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