Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
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ABSTRACT:
SUBMITTER: Chaki M
PROVIDER: S-EPMC3433835 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Publications
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki Moumita M Airik Rannar R Ghosh Amiya K AK Giles Rachel H RH Chen Rui R Slaats Gisela G GG Wang Hui H Hurd Toby W TW Zhou Weibin W Cluckey Andrew A Gee Heon Yung HY Ramaswami Gokul G Hong Chen-Jei CJ Hamilton Bruce A BA Cervenka Igor I Ganji Ranjani Sri RS Bryja Vitezslav V Arts Heleen H HH van Reeuwijk Jeroen J Oud Machteld M MM Letteboer Stef J F SJ Roepman Ronald R Husson Hervé H Ibraghimov-Beskrovnaya Oxana O Yasunaga Takayuki T Walz Gerd G Eley Lorraine L Sayer John A JA Schermer Bernhard B Liebau Max C MC Benzing Thomas T Le Corre Stephanie S Drummond Iain I Janssen Sabine S Allen Susan J SJ Natarajan Sivakumar S O'Toole John F JF Attanasio Massimo M Saunier Sophie S Antignac Corinne C Koenekoop Robert K RK Ren Huanan H Lopez Irma I Nayir Ahmet A Stoetzel Corinne C Dollfus Helene H Massoudi Rustin R Gleeson Joseph G JG Andreoli Sharon P SP Doherty Dan G DG Lindstrad Anna A Golzio Christelle C Katsanis Nicholas N Pape Lars L Abboud Emad B EB Al-Rajhi Ali A AA Lewis Richard A RA Omran Heymut H Lee Eva Y-H P EY Wang Shaohui S Sekiguchi Joann M JM Saunders Rudel R Johnson Colin A CA Garner Elizabeth E Vanselow Katja K Andersen Jens S JS Shlomai Joseph J Nurnberg Gudrun G Nurnberg Peter P Levy Shawn S Smogorzewska Agata A Otto Edgar A EA Hildebrandt Friedhelm F
Cell 20120801 3
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as "ciliopathies." However, disease mechanisms remain poorly understood. Here, we identify by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing NPHP-RC. All three genes function within the DNA damage response (DDR) pathway. We demonstrate that, upon induced DNA ...[more]
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