Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome

Disruption of the centromere protein J gene, CENPJ (CPAP, MCPH6, SCKL4), which is a highly conserved and ubiquitiously expressed centrosomal protein, has been associated with primary microcephaly and the microcephalic primordial dwarfism disorder Seckel syndrome. The mechanism by which disruption of...

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Autors principals: McIntyre, Rebecca E., Lakshminarasimhan Chavali, Pavithra, Ismail, Ozama, Carragher, Damian M., Sanchez-Andrade, Gabriela, Forment, Josep V., Fu, Beiyuan, Del Castillo Velasco-Herrera, Martin, Edwards, Andrew, van der Weyden, Louise, Yang, Fengtang, Ramirez-Solis, Ramiro, Estabel, Jeanne, Gallagher, Ferdia A., Logan, Darren W., Arends, Mark J., Tsang, Stephen H., Mahajan, Vinit B., Scudamore, Cheryl L., White, Jacqueline K., Jackson, Stephen P., Gergely, Fanni, Adams, David J.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2012
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499256/
https://ncbi.nlm.nih.gov/pubmed/23166506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003022
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