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Page 1
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, Janssen S, Fu C, Innis JL, Weber S, Vester U, Davis EE, Katsanis N, Fathy HM, Jeck N, Klaus G, Nayir A, Rahim KA, Al Attrach I, Al Hassoun I, Ozturk S, Drozdz D, Helmchen U, O'Toole JF, Attanasio M, Lewis RA, Nürnberg G, Nürnberg P, Washburn J, MacDonald J, Innis JW, Levy S, Hildebrandt F. Gee HY, et al. Among authors: nurnberg p, nurnberg g. Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20. Kidney Int. 2014. PMID: 24257694 Free PMC article.
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. Sayer JA, et al. Among authors: nurnberg p, nurnberg g. Nat Genet. 2006 Jun;38(6):674-81. doi: 10.1038/ng1786. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682973
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F. Hinkes B, et al. Among authors: nurnberg p, nurnberg g. Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086182
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M. Attanasio M, et al. Among authors: nurnberg p, nurnberg g. Nat Genet. 2007 Aug;39(8):1018-24. doi: 10.1038/ng2072. Epub 2007 Jul 8. Nat Genet. 2007. PMID: 17618285
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
El-Harith el-HA, Roesl C, Ballmaier M, Germeshausen M, Frye-Boukhriss H, von Neuhoff N, Becker C, Nürnberg G, Nürnberg P, Ahmed MA, Hübener J, Schmidtke J, Welte K, Stuhrmann M. El-Harith el-HA, et al. Among authors: nurnberg p, nurnberg g. Br J Haematol. 2009 Jan;144(2):185-94. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19. Br J Haematol. 2009. PMID: 19036112 Free article.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA. Hildebrandt F, et al. Among authors: nurnberg p, nurnberg g. PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23. PLoS Genet. 2009. PMID: 19165332 Free PMC article.
694 results