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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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: 2012
الموضوعات:
Article
الوصول للمادة أونلاين: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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