DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

Juvenile ciliopathy syndromes that are associated with renal cysts and premature renal failure are commonly the result of mutations in the gene encoding centrosomal protein CEP290. In addition to centrosomes and the transition zone at the base of the primary cilium, CEP290 also localizes to the nucl...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Slaats, Gisela G., Saldivar, Joshua C., Bacal, Julien, Zeman, Michelle K., Kile, Andrew C., Hynes, Ann Marie, Srivastava, Shalabh, Nazmutdinova, Jekaterina, den Ouden, Krista, Zagers, Miriam S., Foletto, Veronica, Verhaar, Marianne C., Miles, Colin, Sayer, John A., Cimprich, Karlene A., Giles, Rachel H.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4588305/
https://ncbi.nlm.nih.gov/pubmed/26301811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI80657
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