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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC,… See abstract for full author list ➔ Fritsche LG, et al. Among authors: mcgrath ja. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
Genetic Association Analysis of Drusen Progression.
Hoffman JD, van Grinsven MJ, Li C, Brantley M Jr, McGrath J, Agarwal A, Scott WK, Schwartz SG, Kovach J, Pericak-Vance M, Sanchez CI, Haines JL. Hoffman JD, et al. Invest Ophthalmol Vis Sci. 2016 Apr 1;57(4):2225-31. doi: 10.1167/iovs.15-18571. Invest Ophthalmol Vis Sci. 2016. PMID: 27116550 Free PMC article.
Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In Vitro.
Guri-Lamce I, Alrokh Y, Graham C, Maeshima R, Rognoni E, Caley M, Łaczmański Ł, Hart SL, McGrath JA, Jacków-Malinowska J. Guri-Lamce I, et al. Among authors: mcgrath ja. J Invest Dermatol. 2024 Apr 5:S0022-202X(24)00269-0. doi: 10.1016/j.jid.2024.03.027. Online ahead of print. J Invest Dermatol. 2024. PMID: 38583743 No abstract available.
Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Guy A, Lu H, Kadiyirire T, Hou PC, Aala W, Serrano S, Pramanik R, Walters N, Dimitrakopoulou K, Lwin S, Kalfas E, Satoc J, Laddach R, Cozzetto D, Thomas B, Kesidou E, Rashidghamat E, Orchard G, O'Toole EA, Hsu CK, Saqi M, Steinhoff M, Onoufriadis A, Yosipovitch G, Gould H, Mellerio JE, McGrath JA. Papanikolaou M, et al. Among authors: mcgrath ja. J Am Acad Dermatol. 2024 Mar 13:S0190-9622(24)00487-0. doi: 10.1016/j.jaad.2024.01.088. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 38484894 Free article. No abstract available.
Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ Th2 cells which may contribute to pruritus in lesional skin.
Aala WJF, Hou PC, Hong YK, Lin YC, Lee YR, Tu WT, Papanikolaou M, Benzian-Olsson N, Onoufriadis A, I-Chen Harn H, Hwang DY, Cheng SM, Lu K, Chen PC, McGrath JA, Hsu CK. Aala WJF, et al. Among authors: mcgrath ja. Br J Dermatol. 2024 Mar 13:ljae110. doi: 10.1093/bjd/ljae110. Online ahead of print. Br J Dermatol. 2024. PMID: 38477474
677 results