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Immunology of age-related macular degeneration.
Ambati J, Atkinson JP, Gelfand BD. Ambati J, et al. Among authors: atkinson jp. Nat Rev Immunol. 2013 Jun;13(6):438-51. doi: 10.1038/nri3459. Nat Rev Immunol. 2013. PMID: 23702979 Free PMC article. Review.
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S. Seddon JM, et al. Among authors: atkinson jp. Nat Genet. 2013 Nov;45(11):1366-70. doi: 10.1038/ng.2741. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036952 Free PMC article.
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.
Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M; AMD Clinical Study Group. Hageman GS, et al. Ann Med. 2006;38(8):592-604. Ann Med. 2006. PMID: 17438673 Free PMC article.
The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
McMahon O, Hallam TM, Patel S, Harris CL, Menny A, Zelek WM, Widjajahakim R, Java A, Cox TE, Tzoumas N, Steel DHW, Shuttleworth VG, Smith-Jackson K, Brocklebank V, Griffiths H, Cree AJ, Atkinson JP, Lotery AJ, Bubeck D, Morgan BP, Marchbank KJ, Seddon JM, Kavanagh D. McMahon O, et al. Among authors: atkinson jp. Hum Mol Genet. 2021 Jun 17;30(13):1188-1199. doi: 10.1093/hmg/ddab086. Hum Mol Genet. 2021. PMID: 33783477 Free PMC article.
423 results