Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

A homozygous truncating frameshift mutation in CEP57 (CEP57(T/T)) has been identified in a subset of mosaic-variegated aneuploidy (MVA) patients; however, the physiological roles of the centrosome-associated protein CEP57 that contribute to disease are unknown. To investigate these, we have generate...

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Detalles Bibliográficos
Autores principales: Aziz, Khaled, Sieben, Cynthia J., Jeganathan, Karthik B., Hamada, Masakazu, Davies, Brian A., Velasco, Raul O. Fierro, Rahman, Nazneen, Katzmann, David J., van Deursen, Jan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063474/
https://www.ncbi.nlm.nih.gov/pubmed/30035751
http://dx.doi.org/10.1172/JCI120316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063474/
https://www.ncbi.nlm.nih.gov/pubmed/30035751
http://dx.doi.org/10.1172/JCI120316

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