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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: lane a. 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.
Using Stem Cells to Model Diseases of the Outer Retina.
Yvon C, Ramsden CM, Lane A, Powner MB, da Cruz L, Coffey PJ, Carr AJ. Yvon C, et al. Among authors: lane a. Comput Struct Biotechnol J. 2015 May 6;13:382-9. doi: 10.1016/j.csbj.2015.05.001. eCollection 2015. Comput Struct Biotechnol J. 2015. PMID: 26106463 Free PMC article. Review.
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: lane a. 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.
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: lane a. 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.
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: lane a. 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: lane a. 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.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium. Fasham J, et al. Among authors: lane a. Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. Am J Med Genet A. 2019. PMID: 31192531 Free PMC article. No abstract available.
1,786 results