Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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Published:2017-08-14
Issue:10
Volume:49
Page:1529-1538
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Braun Daniela A, Rao Jia, Mollet Geraldine, Schapiro David, Daugeron Marie-Claire, Tan Weizhen, Gribouval OlivierORCID, Boyer Olivia, Revy Patrick, Jobst-Schwan Tilman, Schmidt Johanna Magdalena, Lawson Jennifer A, Schanze DennyORCID, Ashraf Shazia, Ullmann Jeremy F P, Hoogstraten Charlotte A, Boddaert NathalieORCID, Collinet Bruno, Martin Gaëlle, Liger Dominique, Lovric Svjetlana, Furlano Monica, Guerrera I Chiara, Sanchez-Ferras Oraly, Hu Jennifer FORCID, Boschat Anne-Claire, Sanquer Sylvia, Menten Björn, Vergult SarahORCID, De Rocker Nina, Airik Merlin, Hermle Tobias, Shril Shirlee, Widmeier Eugen, Gee Heon YungORCID, Choi Won-Il, Sadowski Carolin E, Pabst Werner L, Warejko Jillian K, Daga Ankana, Basta Tamara, Matejas VerenaORCID, Scharmann Karin, Kienast Sandra D, Behnam BabakORCID, Beeson Brendan, Begtrup Amber, Bruce Malcolm, Ch'ng Gaik-Siew, Lin Shuan-Pei, Chang Jui-Hsing, Chen Chao-Huei, Cho Megan T, Gaffney Patrick M, Gipson Patrick E, Hsu Chyong-Hsin, Kari Jameela A, Ke Yu-Yuan, Kiraly-Borri Cathy, Lai Wai-ming, Lemyre Emmanuelle, Littlejohn Rebecca Okashah, Masri Amira, Moghtaderi Mastaneh, Nakamura Kazuyuki, Ozaltin Fatih, Praet Marleen, Prasad Chitra, Prytula AgnieszkaORCID, Roeder Elizabeth R, Rump PatrickORCID, Schnur Rhonda E, Shiihara Takashi, Sinha Manish D, Soliman Neveen A, Soulami Kenza, Sweetser David A, Tsai Wen-Hui, Tsai Jeng-Daw, Topaloglu Rezan, Vester Udo, Viskochil David H, Vatanavicharn Nithiwat, Waxler Jessica L, Wierenga Klaas J, Wolf Matthias T F, Wong Sik-Nin, Leidel Sebastian A, Truglio Gessica, Dedon Peter C, Poduri Annapurna, Mane Shrikant, Lifton Richard P, Bouchard Maxime, Kannu Peter, Chitayat David, Magen Daniella, Callewaert Bert, van Tilbeurgh Herman, Zenker Martin, Antignac CorinneORCID, Hildebrandt FriedhelmORCID
Publisher
Springer Science and Business Media LLC
Reference55 articles.
1. Vodopiutz, J. et al. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Hum. Mutat. 36, 1021–1028 (2015). 2. Jinks, R.N. et al. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138, 2173–2190 (2015). 3. Colin, E. et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am. J. Hum. Genet. 95, 637–648 (2014). 4. Hildebrandt, F. et al. A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet. 5, e1000353 (2009). 5. Chaki, M. et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150, 533–548 (2012).
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