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Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM. Neale BM, et al. Among authors: frederick jm. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7395-400. doi: 10.1073/pnas.0912019107. Epub 2010 Apr 12. Proc Natl Acad Sci U S A. 2010. PMID: 20385826 Free PMC article.
Inactivity of human β,β-carotene-9',10'-dioxygenase (BCO2) underlies retinal accumulation of the human macular carotenoid pigment.
Li B, Vachali PP, Gorusupudi A, Shen Z, Sharifzadeh H, Besch BM, Nelson K, Horvath MM, Frederick JM, Baehr W, Bernstein PS. Li B, et al. Among authors: frederick jm. Proc Natl Acad Sci U S A. 2014 Jul 15;111(28):10173-8. doi: 10.1073/pnas.1402526111. Epub 2014 Jun 30. Proc Natl Acad Sci U S A. 2014. PMID: 24982131 Free PMC article. Clinical Trial.
Supplementation with macular carotenoids improves visual performance of transgenic mice.
Li B, Rognon GT, Mattinson T, Vachali PP, Gorusupudi A, Chang FY, Ranganathan A, Nelson K, George EW, Frederick JM, Bernstein PS. Li B, et al. Among authors: frederick jm. Arch Biochem Biophys. 2018 Jul 1;649:22-28. doi: 10.1016/j.abb.2018.05.003. Epub 2018 May 6. Arch Biochem Biophys. 2018. PMID: 29742455 Free PMC article.
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K. Yang Z, et al. Among authors: frederick jm. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891. J Clin Invest. 2008. PMID: 18654668 Free PMC article.
82 results