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Embryonic and foetal expression patterns of the ciliopathy gene CEP164.
Devlin LA, Ramsbottom SA, Overman LM, Lisgo SN, Clowry G, Molinari E, Powell L, Miles CG, Sayer JA. Devlin LA, et al. Among authors: sayer ja. PLoS One. 2020 Jan 28;15(1):e0221914. doi: 10.1371/journal.pone.0221914. eCollection 2020. PLoS One. 2020. PMID: 31990917 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.
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed MH, Kurdi W, Alsahan N, Alabdullah Z, Abudraz R, Tulbah M, Alnemer M, Khan R, Al-Jurayb H, Alahmed A, Tahir AI, Khalil D, Edwards N, Al Abdulaziz B, Binhumaid FS, Majid S, Faquih T, El-Kalioby M, Abouelhoda M, Altassan N, Monies D, Meyer B, Sayer JA, Albaqumi M. Al-Hamed MH, et al. Among authors: sayer ja. J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9. J Med Genet. 2016. PMID: 26862157 Free PMC article.
239 results