Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.

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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Autores principales: Rebecca E McIntyre, Pavithra Lakshminarasimhan Chavali, Ozama Ismail, Damian M Carragher, Gabriela Sanchez-Andrade, Josep V Forment, Beiyuan Fu, Martin Del Castillo Velasco-Herrera, Andrew Edwards, Louise van der Weyden, Fengtang Yang, Sanger Mouse Genetics Project, Ramiro Ramirez-Solis, Jeanne Estabel, Ferdia A Gallagher, Darren W Logan, Mark J Arends, Stephen H Tsang, Vinit B Mahajan, Cheryl L Scudamore, Jacqueline K White, Stephen P Jackson, Fanni Gergely, David J Adams
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
Materias:
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/59c11391f61449a4aa008d3e380c5a64
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