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11. Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Wilson DJ, Pennesi ME, Lam BL, Chiang J, Chulay JD, Dubra A, Hauswirth WW, Carroll J, ACHM-001 Study Group. Invest Ophthalmol Vis Sci; 2016 Aug 01; 57(10):3984-95. PubMed ID: 27479814 [Abstract] [Full Text] [Related]
12. Characterization of Retinal Structure in ATF6-Associated Achromatopsia. Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J. Invest Ophthalmol Vis Sci; 2019 Jun 03; 60(7):2631-2640. PubMed ID: 31237654 [Abstract] [Full Text] [Related]
15. The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility. Ding XQ, Thapa A, Ma H, Xu J, Elliott MH, Rodgers KK, Smith ML, Wang JS, Pittler SJ, Kefalov VJ. J Biol Chem; 2016 Apr 15; 291(16):8721-34. PubMed ID: 26893377 [Abstract] [Full Text] [Related]
16. Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes. Jinda W, Tuekprakhon A, Thongnoppakhun W, Limwongse C, Trinavarat A, Atchaneeyasakul LO. Int Ophthalmol; 2021 Jan 15; 41(1):121-134. PubMed ID: 32869108 [Abstract] [Full Text] [Related]
17. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Hum Mol Genet; 2000 Sep 01; 9(14):2107-16. PubMed ID: 10958649 [Abstract] [Full Text] [Related]
18. Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice. Matveev AV, Quiambao AB, Browning Fitzgerald J, Ding XQ. J Neurochem; 2008 Sep 01; 106(5):2042-55. PubMed ID: 18665891 [Abstract] [Full Text] [Related]
19. Novel CNGA3 mutations in Chinese patients with achromatopsia. Liang X, Dong F, Li H, Li H, Yang L, Sui R. Br J Ophthalmol; 2015 Apr 01; 99(4):571-6. PubMed ID: 25637600 [Abstract] [Full Text] [Related]
20. Achromatopsia: on the doorstep of a possible therapy. Zobor D, Zobor G, Kohl S. Ophthalmic Res; 2015 Apr 01; 54(2):103-8. PubMed ID: 26304472 [Abstract] [Full Text] [Related] Page: [Next] [New Search]