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2019 1
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Page 1
Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.
Yang C, Georgiou M, Atkinson R, Collin J, Al-Aama J, Nagaraja-Grellscheid S, Johnson C, Ali R, Armstrong L, Mozaffari-Jovin S, Lako M. Yang C, et al. Front Cell Dev Biol. 2021 Jul 28;9:700276. doi: 10.3389/fcell.2021.700276. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34395430 Free PMC article. Review.
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Georgiou M, Yang C, Atkinson R, Pan KT, Buskin A, Molina MM, Collin J, Al-Aama J, Goertler F, Ludwig SEJ, Davey T, Lührmann R, Nagaraja-Grellscheid S, Johnson CA, Ali R, Armstrong L, Korolchuk V, Urlaub H, Mozaffari-Jovin S, Lako M. Georgiou M, et al. Clin Transl Med. 2022 Mar;12(3):e759. doi: 10.1002/ctm2.759. Clin Transl Med. 2022. PMID: 35297555 Free PMC article.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S, Yu J, Lord J, Roche M, Watson CM, Bevers RPJ, Stuckey A, Madhusudhan S, Jewell R, Sisodiya SM, Lin S, Turner S, Robinson H, Leslie JS, Baple E; Genomics England Research Consortium; Toomes C, Inglehearn C, Wheway G, Johnson CA. Best S, et al. J Med Genet. 2022 Dec;59(12):1151-1164. doi: 10.1136/jmedgenet-2022-108476. Epub 2022 Jun 28. J Med Genet. 2022. PMID: 35764379 Free PMC article.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium. Best S, et al. J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29. J Med Genet. 2022. PMID: 34716235 Free PMC article.
Human Retinal Organoids Provide a Suitable Tool for Toxicological Investigations: A Comprehensive Validation Using Drugs and Compounds Affecting the Retina.
Dorgau B, Georgiou M, Chaudhary A, Moya-Molina M, Collin J, Queen R, Hilgen G, Davey T, Hewitt P, Schmitt M, Kustermann S, Pognan F, Steel DH, Sernagor E, Armstrong L, Lako M. Dorgau B, et al. Stem Cells Transl Med. 2022 Mar 17;11(2):159-177. doi: 10.1093/stcltm/szab010. Stem Cells Transl Med. 2022. PMID: 35298655 Free PMC article.
13 results