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Page 1
Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
Corre T, Arjona FJ, Hayward C, Youhanna S, de Baaij JHF, Belge H, Nägele N, Debaix H, Blanchard MG, Traglia M, Harris SE, Ulivi S, Rueedi R, Lamparter D, Macé A, Sala C, Lenarduzzi S, Ponte B, Pruijm M, Ackermann D, Ehret G, Baptista D, Polasek O, Rudan I, Hurd TW, Hastie ND, Vitart V, Waeber G, Kutalik Z, Bergmann S, Vargas-Poussou R, Konrad M, Gasparini P, Deary IJ, Starr JM, Toniolo D, Vollenweider P, Hoenderop JGJ, Bindels RJM, Bochud M, Devuyst O. Corre T, et al. Among authors: hurd tw. J Am Soc Nephrol. 2018 Jan;29(1):335-348. doi: 10.1681/ASN.2017030267. Epub 2017 Nov 1. J Am Soc Nephrol. 2018. PMID: 29093028 Free PMC article.
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
Hurd TW, Otto EA, Mishima E, Gee HY, Inoue H, Inazu M, Yamada H, Halbritter J, Seki G, Konishi M, Zhou W, Yamane T, Murakami S, Caridi G, Ghiggeri G, Abe T, Hildebrandt F. Hurd TW, et al. J Am Soc Nephrol. 2013 May;24(6):967-77. doi: 10.1681/ASN.2012101034. Epub 2013 May 9. J Am Soc Nephrol. 2013. PMID: 23661805 Free PMC article.
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
Airik R, Slaats GG, Guo Z, Weiss AC, Khan N, Ghosh A, Hurd TW, Bekker-Jensen S, Schrøder JM, Elledge SJ, Andersen JS, Kispert A, Castelli M, Boletta A, Giles RH, Hildebrandt F. Airik R, et al. Among authors: hurd tw. J Am Soc Nephrol. 2014 Nov;25(11):2573-83. doi: 10.1681/ASN.2013050565. Epub 2014 Apr 10. J Am Soc Nephrol. 2014. PMID: 24722439 Free PMC article.
Mechanisms of nephronophthisis and related ciliopathies.
Hurd TW, Hildebrandt F. Hurd TW, et al. Nephron Exp Nephrol. 2011;118(1):e9-14. doi: 10.1159/000320888. Epub 2010 Nov 11. Nephron Exp Nephrol. 2011. PMID: 21071979 Free PMC article. Review.
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: hurd tw. 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.
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Gee HY, Ashraf S, Wan X, Vega-Warner V, Esteve-Rudd J, Lovric S, Fang H, Hurd TW, Sadowski CE, Allen SJ, Otto EA, Korkmaz E, Washburn J, Levy S, Williams DS, Bakkaloglu SA, Zolotnitskaya A, Ozaltin F, Zhou W, Hildebrandt F. Gee HY, et al. Among authors: hurd tw. Am J Hum Genet. 2014 Jun 5;94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814193 Free PMC article.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Chaki M, et al. Among authors: hurd tw. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028. Cell. 2012. PMID: 22863007 Free PMC article.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. Among authors: hurd tw. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
51 results