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Seven new loci associated with age-related macular degeneration.
Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivaku… See abstract for full author list ➔ Fritsche LG, et al. Among authors: pappas c. Nat Genet. 2013 Apr;45(4):433-9, 439e1-2. doi: 10.1038/ng.2578. Epub 2013 Mar 3. Nat Genet. 2013. PMID: 23455636 Free PMC article.
Chromosome 10q26-driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium.
Williams BL, Seager NA, Gardiner JD, Pappas CM, Cronin MC, Amat di San Filippo C, Anstadt RA, Liu J, Toso MA, Nichols L, Parnell TJ, Eve JR, Heinz S, Hayes MGB, Bartel PL, Zouache MA, Richards BT, Hageman GS. Williams BL, et al. Among authors: pappas cm. Proc Natl Acad Sci U S A. 2021 Jul 27;118(30):e2103617118. doi: 10.1073/pnas.2103617118. Proc Natl Acad Sci U S A. 2021. PMID: 34301870 Free PMC article.
Progression of Age-Related Macular Degeneration Among Individuals Homozygous for Risk Alleles on Chromosome 1 (CFH-CFHR5) or Chromosome 10 (ARMS2/HTRA1) or Both.
Schmitz-Valckenberg S, Fleckenstein M, Zouache MA, Pfau M, Pappas C, Hageman JL, Agrón E, Malley C, Keenan TDL, Chew EY, Hageman GS. Schmitz-Valckenberg S, et al. Among authors: pappas c. JAMA Ophthalmol. 2022 Mar 1;140(3):252-260. doi: 10.1001/jamaophthalmol.2021.6072. JAMA Ophthalmol. 2022. PMID: 35113155 Free PMC article.
Characterization of West African Crystalline Macular Dystrophy in the Ghanaian Population.
Amoaku WM, Sampalli A, Silvestri V, Cushley LN, Akafo S, Amissah-Arthur KN, Lartey S, Hageman CN, Hubbard WC, Pappas CM, Zouache MA, Stevenson M, Hageman GS, Silvestri G; Ghana AMD Study Group. Amoaku WM, et al. Among authors: pappas cm. Ophthalmol Retina. 2022 Aug;6(8):723-731. doi: 10.1016/j.oret.2022.03.006. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35307605
Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression.
Zouache MA, Richards BT, Pappas CM, Anstadt RA, Liu J, Corsetti T, Matthews S, Seager NA, Schmitz-Valckenberg S, Fleckenstein M, Hubbard WC, Thomas J, Hageman JL, Williams BL, Hageman GS. Zouache MA, et al. Among authors: pappas cm. Nat Commun. 2024 Jan 10;15(1):443. doi: 10.1038/s41467-023-44605-0. Nat Commun. 2024. PMID: 38200010 Free PMC article.
Levels of the HtrA1 Protein in Serum and Vitreous Humor Are Independent of Genetic Risk for Age-Related Macular Degeneration at the 10q26 Locus.
Williams BL, Zouache MA, Seager NA, Pappas CM, Liu J, Anstadt RA, Hubbard WC, Thomas J, Hageman JL, Mohler J, Richards BT, Hageman GS. Williams BL, et al. Among authors: pappas cm. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):34. doi: 10.1167/iovs.65.4.34. Invest Ophthalmol Vis Sci. 2024. PMID: 38648039 Free PMC article.
486 results