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

Weibin Zhou,Edgar A Otto,Andrew Cluckey,Rannar Airik,Toby W Hurd,Moumita Chaki,Katrina Diaz,Francis P Lach, Geoffrey R Bennett,Heon Yung Gee,Amiya K Ghosh,Sivakumar Natarajan,Supawat Thongthip,Uma Veturi,Susan J Allen,Sabine Janssen,Gokul Ramaswami,Joanne Dixon,Felix Burkhalter,Martin Spoendlin,Holger Moch,Michael J Mihatsch,Jerome Verine,Richard Reade,Hany Soliman,Michel Godin,Denes Kiss,Guido Monga,Gianna Mazzucco,Kerstin Amann,Ferruh Artunc,Ronald C Newland,Thorsten Wiech,Stefan Zschiedrich,Tobias B Huber,Andreas Friedl,Gisela G Slaats,Jaap A Joles,Roel Goldschmeding,Joseph Washburn,Rachel H Giles,Shawn Levy,Agata Smogorzewska,Friedhelm Hildebrandt

NATURE GENETICS（2012）

Cited 196|Views44
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Abstract
Friedhelm Hildebrandt, Agata Smogorzewska and colleagues show that mutations in the DNA repair gene FAN1 cause karyomegalic interstitial nephritis. These findings implicate deficient DNA damage response signaling in the pathophysiology of renal fibrosis.
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Key words
mutation,genes,zebrafish,dna damage,dna repair,cell line,recessive
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