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124 results

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Page 1
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis.
Leung A, Sacristan-Reviriego A, Perdigão PRL, Sai H, Georgiou M, Kalitzeos A, Carr AF, Coffey PJ, Michaelides M, Bainbridge J, Cheetham ME, van der Spuy J. Leung A, et al. Among authors: coffey pj. Stem Cell Reports. 2022 Oct 11;17(10):2187-2202. doi: 10.1016/j.stemcr.2022.08.005. Epub 2022 Sep 8. Stem Cell Reports. 2022. PMID: 36084639 Free PMC article.
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
Parfitt DA, Lane A, Ramsden CM, Carr AF, Munro PM, Jovanovic K, Schwarz N, Kanuga N, Muthiah MN, Hull S, Gallo JM, da Cruz L, Moore AT, Hardcastle AJ, Coffey PJ, Cheetham ME. Parfitt DA, et al. Among authors: coffey pj. Cell Stem Cell. 2016 Jun 2;18(6):769-781. doi: 10.1016/j.stem.2016.03.021. Epub 2016 Apr 14. Cell Stem Cell. 2016. PMID: 27151457 Free PMC article.
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
Schwarz N, Carr AJ, Lane A, Moeller F, Chen LL, Aguilà M, Nommiste B, Muthiah MN, Kanuga N, Wolfrum U, Nagel-Wolfrum K, da Cruz L, Coffey PJ, Cheetham ME, Hardcastle AJ. Schwarz N, et al. Among authors: coffey pj. Hum Mol Genet. 2015 Feb 15;24(4):972-86. doi: 10.1093/hmg/ddu509. Epub 2014 Oct 6. Hum Mol Genet. 2015. PMID: 25292197 Free PMC article.
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Carter DA, Smart MJ, Letton WV, Ramsden CM, Nommiste B, Chen LL, Fynes K, Muthiah MN, Goh P, Lane A, Powner MB, Webster AR, da Cruz L, Moore AT, Coffey PJ, Carr AF. Carter DA, et al. Among authors: coffey pj. Sci Rep. 2016 Sep 22;6:33792. doi: 10.1038/srep33792. Sci Rep. 2016. PMID: 27653836 Free PMC article.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME. Schwarz N, et al. Among authors: coffey pj. Hum Mol Genet. 2017 Jul 1;26(13):2480-2492. doi: 10.1093/hmg/ddx143. Hum Mol Genet. 2017. PMID: 28444310 Free PMC article.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME. Schwarz N, et al. Among authors: coffey pj. Hum Mol Genet. 2017 Sep 1;26(17):3451. doi: 10.1093/hmg/ddx245. Hum Mol Genet. 2017. PMID: 28854704 Free PMC article. No abstract available.
Spatiotemporal control of actomyosin contractility by MRCKβ signaling drives phagocytosis.
Zihni C, Georgiadis A, Ramsden CM, Sanchez-Heras E, Haas AJ, Nommiste B, Semenyuk O, Bainbridge JWB, Coffey PJ, Smith AJ, Ali RR, Balda MS, Matter K. Zihni C, et al. Among authors: coffey pj. J Cell Biol. 2022 Nov 7;221(11):e202012042. doi: 10.1083/jcb.202012042. Epub 2022 Sep 19. J Cell Biol. 2022. PMID: 36121394 Free PMC article.
124 results