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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE; UKIRDC; Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. Arno G, et al. Among authors: hayes mj. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. doi: 10.1016/j.ajhg.2016.10.008. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889058 Free PMC article.
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP. Duncan EJ, et al. Among authors: hayes mj. Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197. Hum Mol Genet. 2017. PMID: 28535259 Free PMC article.
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M. Toms M, et al. Hum Mol Genet. 2020 Jul 21;29(11):1882-1899. doi: 10.1093/hmg/ddaa004. Hum Mol Genet. 2020. PMID: 31998945 Free PMC article.
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.
Lane A, Jovanovic K, Shortall C, Ottaviani D, Panes AB, Schwarz N, Guarascio R, Hayes MJ, Palfi A, Chadderton N, Farrar GJ, Hardcastle AJ, Cheetham ME. Lane A, et al. Among authors: hayes mj. Stem Cell Reports. 2020 Jul 14;15(1):67-79. doi: 10.1016/j.stemcr.2020.05.007. Epub 2020 Jun 11. Stem Cell Reports. 2020. PMID: 32531192 Free PMC article.
Antioxidant and lipid supplementation improve the development of photoreceptor outer segments in pluripotent stem cell-derived retinal organoids.
West EL, Majumder P, Naeem A, Fernando M, O'Hara-Wright M, Lanning E, Kloc M, Ribeiro J, Ovando-Roche P, Shum IO, Jumbu N, Sampson R, Hayes M, Bainbridge JWB, Georgiadis A, Smith AJ, Gonzalez-Cordero A, Ali RR. West EL, et al. Stem Cell Reports. 2022 Apr 12;17(4):775-788. doi: 10.1016/j.stemcr.2022.02.019. Epub 2022 Mar 24. Stem Cell Reports. 2022. PMID: 35334217 Free PMC article.
182 results