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Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA. Ramsbottom SA, et al. Among authors: sayer ja. Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):12489-12494. doi: 10.1073/pnas.1809432115. Epub 2018 Nov 16. Proc Natl Acad Sci U S A. 2018. PMID: 30446612 Free PMC article.
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Wolf MT, et al. Among authors: sayer ja. Kidney Int. 2007 Dec;72(12):1520-6. doi: 10.1038/sj.ki.5002630. Epub 2007 Oct 24. Kidney Int. 2007. PMID: 17960139 Free 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.
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: sayer ja. 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.
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF. Roberson EC, et al. Among authors: sayer ja. J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087. J Cell Biol. 2015. PMID: 25869670 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.
235 results