FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Chronic kidney disease (CKD) represents a major health burden(1). Its central feature of renal fibrosis is not well understood. By whole exome resequencing in a model disorder for renal fibrosis, nephronophthisis (NPHP), we identified mutations of Fanconi anemia-associated nuclease 1 (FAN1) as causi...

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Principais autores: Zhou, Weibin, Otto, Edgar A., Cluckey, Andrew, Airik, Rannar, Hurd, Toby W., Chaki, Moumita, Diaz, Katrina, Lach, Francis P., Bennett, Geoffrey R., Gee, Heon Y., Ghosh, Amiya K., Natarajan, Sivakumar, Thongthip, Supawat, Veturi, Uma, Allen, Susan J., Janssen, Sabine, Ramaswami, Gokul, Dixon, Joanne, Burkhalter, Felix, Spoendlin, Martin, Moch, Holger, Mihatsch, Michael J., Verine, Jerome, Reade, Richard, Soliman, Hany, Godin, Michel, Kiss, Denes, Monga, Guido, Mazzucco, Gianna, Amann, Kerstin, Artunc, Ferruh, Newland, Ronald C., Wiech, Thorsten, Zschiedrich, Stefan, Huber, Tobias B., Friedl, Andreas, Slaats, Gisela G., Joles, Jaap A., Goldschmeding, Roel, Washburn, Joseph, Giles, Rachel H., Levy, Shawn, Smogorzewska, Agata, Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3412140/
https://ncbi.nlm.nih.gov/pubmed/22772369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2347
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