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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. 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.
Nephronophthisis: a genetically diverse ciliopathy.
Simms RJ, Hynes AM, Eley L, Sayer JA. Simms RJ, et al. Among authors: hynes am. Int J Nephrol. 2011;2011:527137. doi: 10.4061/2011/527137. Epub 2011 May 15. Int J Nephrol. 2011. PMID: 21660307 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: hynes am. 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.
Functional modelling of a novel mutation in BBS5.
Al-Hamed MH, van Lennep C, Hynes AM, Chrystal P, Eley L, Al-Fadhly F, El Sayed R, Simms RJ, Meyer B, Sayer JA. Al-Hamed MH, et al. Among authors: hynes am. Cilia. 2014 Feb 21;3(1):3. doi: 10.1186/2046-2530-3-3. Cilia. 2014. PMID: 24559376 Free PMC article.
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA. Edwards N, et al. Among authors: hynes am. Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 5. Clin Kidney J. 2015. PMID: 25713721 Free PMC article.
CYP24A1 mutation leading to nephrocalcinosis.
Dowen FE, Sayers JA, Hynes AM, Sayer JA. Dowen FE, et al. Among authors: hynes am. Kidney Int. 2014 Jun;85(6):1475. doi: 10.1038/ki.2013.416. Kidney Int. 2014. PMID: 24875559 Free article. No abstract available.
48 results