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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: sayer ja. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028. Cell. 2012. PMID: 22863007 Free PMC article.
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.
Hynes AM, Giles RH, Srivastava S, Eley L, Whitehead J, Danilenko M, Raman S, Slaats GG, Colville JG, Ajzenberg H, Kroes HY, Thelwall PE, Simmons NL, Miles CG, Sayer JA. Hynes AM, et al. Among authors: sayer ja. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9893-8. doi: 10.1073/pnas.1322373111. Epub 2014 Jun 19. Proc Natl Acad Sci U S A. 2014. PMID: 24946806 Free PMC article.
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH. Slaats GG, et al. Among authors: sayer ja. J Clin Invest. 2015 Sep;125(9):3657-66. doi: 10.1172/JCI80657. Epub 2015 Aug 24. J Clin Invest. 2015. PMID: 26301811 Free PMC article.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA. Molinari E, et al. Among authors: sayer ja. Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12. Eur J Hum Genet. 2018. PMID: 30002499 Free PMC article.
234 results