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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2018
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Materias: | |
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 |
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