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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Saksens NT, et al. Among authors: peachey ns. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691986 Free PMC article.
Mutations in the RPGR gene cause X-linked cone dystrophy.
Yang Z, Peachey NS, Moshfeghi DM, Thirumalaichary S, Chorich L, Shugart YY, Fan K, Zhang K. Yang Z, et al. Among authors: peachey ns. Hum Mol Genet. 2002 Mar 1;11(5):605-11. doi: 10.1093/hmg/11.5.605. Hum Mol Genet. 2002. PMID: 11875055
Attenuation of oscillatory potentials in nob2 mice.
Yu M, Peachey NS. Yu M, et al. Among authors: peachey ns. Doc Ophthalmol. 2007 Nov;115(3):173-86. doi: 10.1007/s10633-007-9058-9. Epub 2007 May 4. Doc Ophthalmol. 2007. PMID: 17479213 Free PMC article.
Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.
Edwards MM, Mammadova-Bach E, Alpy F, Klein A, Hicks WL, Roux M, Simon-Assmann P, Smith RS, Orend G, Wu J, Peachey NS, Naggert JK, Lefebvre O, Nishina PM. Edwards MM, et al. Among authors: peachey ns. J Biol Chem. 2010 Mar 5;285(10):7697-711. doi: 10.1074/jbc.M109.069575. Epub 2010 Jan 4. J Biol Chem. 2010. PMID: 20048158 Free PMC article.
Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2.
Edwards MM, Marín de Evsikova C, Collin GB, Gifford E, Wu J, Hicks WL, Whiting C, Varvel NH, Maphis N, Lamb BT, Naggert JK, Nishina PM, Peachey NS. Edwards MM, et al. Among authors: peachey ns. Invest Ophthalmol Vis Sci. 2010 Jun;51(6):3264-72. doi: 10.1167/iovs.09-4887. Epub 2010 Jan 13. Invest Ophthalmol Vis Sci. 2010. PMID: 20071672 Free PMC article.
Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice.
Budzynski E, Gross AK, McAlear SD, Peachey NS, Shukla M, He F, Edwards M, Won J, Hicks WL, Wensel TG, Naggert JK, Nishina PM. Budzynski E, et al. Among authors: peachey ns. J Biol Chem. 2010 May 7;285(19):14521-33. doi: 10.1074/jbc.M110.112409. Epub 2010 Mar 5. J Biol Chem. 2010. PMID: 20207741 Free PMC article.
219 results