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ClinicalTrials.gov (NCT01802866) Safety and Efficacy Assessment Treatment Trials of Emixustat Hydrochloride. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT02402660) Tolerability and Effects of ALK-001 on Stargardt Disease. U.S. National Institutes of Health.
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Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800035470)
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ClinicalTrials.gov (NCT00306488) OT-551 Antioxidant Eye Drops to Treat Geographic Atrophy in Age-Related Macular Degeneration. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT02348359) X-82 to Treat Age-related Macular Degeneration. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT00229736) A Study of AAV-hAADC-2 in Subjects With Parkinson's Disease. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT03178149) A Study of the Safety and Tolerability of ASP7317 in Adults Who Are Losing Their Clear, Sharp Central Vision Due to Geographic Atrophy Secondary to Dry Age-related Macular Degeneration. U.S. National Institutes of Health.
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URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2339).
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Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial.Ophthalmology. 2020 Feb;127(2):186-195. doi: 10.1016/j.ophtha.2019.07.011. Epub 2019 Jul 16.
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The role of complement membrane attack complex in dry and wet AMD - From hypothesis to clinical trials.Exp Eye Res. 2019 Jul;184:266-277. doi: 10.1016/j.exer.2019.05.006. Epub 2019 May 10.
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Activator of G-protein signaling 8 is involved in VEGF-induced choroidal neovascularization.Sci Rep. 2019 Feb 7;9(1):1560. doi: 10.1038/s41598-018-38067-4.
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Genetic LAMP2 deficiency accelerates the age-associated formation of basal laminar deposits in the retina.Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23724-23734. doi: 10.1073/pnas.1906643116. Epub 2019 Nov 7.
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The Placental Growth Factor Pathway and Its Potential Role in Macular Degenerative Disease.Curr Eye Res. 2019 Aug;44(8):813-822. doi: 10.1080/02713683.2019.1614197. Epub 2019 May 24.
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Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium.Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2366-2387. doi: 10.1167/iovs.16-21162.
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Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2049-2063. doi: 10.1167/iovs.18-25531.
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Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.J Cell Biol. 2019 Mar 4;218(3):1027-1038. doi: 10.1083/jcb.201806148. Epub 2019 Jan 10.
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SQSTM1/p62 regulates the production of IL-8 and MCP-1 in IL-1-stimulated human retinal pigment epithelial cells.Cytokine. 2019 Apr;116:70-77. doi: 10.1016/j.cyto.2018.12.015. Epub 2019 Jan 24.
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Application and interpretation of genome-wide association (GWA) studies for informing pharmacogenomic research - examples from the field of age-related macular degeneration.Curr Mol Med. 2014;14(7):814-32. doi: 10.2174/1566524014666140811113606.
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C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway.Sci Rep. 2018 Jun 26;8(1):9679. doi: 10.1038/s41598-018-28143-0.
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Distinct CD40L receptors mediate inflammasome activation and secretion of IL-1 and MCP-1 in cultured human retinal pigment epithelial cells.Exp Eye Res. 2018 May;170:29-39. doi: 10.1016/j.exer.2018.02.014. Epub 2018 Feb 16.
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Age-Related Macular Degeneration: A Connection between Human Herpes Virus-6A-Induced CD46 Downregulation and Complement Activation?.Front Immunol. 2017 Oct 17;8:1314. doi: 10.3389/fimmu.2017.01314. eCollection 2017.
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Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005 Mar;25(3):248-58. doi: 10.1002/humu.20142.
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CNTF-mediated protection of photoreceptors requires initial activation of the cytokine receptor gp130 in Mller glial cells.Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4520-9. doi: 10.1073/pnas.1303604110. Epub 2013 Nov 4.
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Phase 1 dose-escalation study of a siRNA targeting the RTP801 gene in age-related macular degeneration patients.Eye (Lond). 2012 Aug;26(8):1099-105. doi: 10.1038/eye.2012.106. Epub 2012 May 25.
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In situ regeneration of retinal pigment epithelium by gene transfer of E2F2: a potential strategy for treatment of macular degenerations.Gene Ther. 2017 Dec;24(12):810-818. doi: 10.1038/gt.2017.89. Epub 2017 Nov 30.
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Ferrochelatase is a therapeutic target for ocular neovascularization.EMBO Mol Med. 2017 Jun;9(6):786-801. doi: 10.15252/emmm.201606561.
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FPR1 interacts with CFH, HTRA1 and smoking in exudative age-related macular degeneration and polypoidal choroidal vasculopathy.Eye (Lond). 2014 Dec;28(12):1502-10. doi: 10.1038/eye.2014.226. Epub 2014 Oct 3.
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Elemental concentrations in Choroid-RPE and retina of human eyes with age-related macular degeneration.Exp Eye Res. 2019 Sep;186:107718. doi: 10.1016/j.exer.2019.107718. Epub 2019 Jul 1.
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ATAC-Seq analysis reveals a widespread decrease of chromatin accessibility in age-related macular degeneration.Nat Commun. 2018 Apr 10;9(1):1364. doi: 10.1038/s41467-018-03856-y.
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Leukotriene B4 promotes neovascularization and macrophage recruitment in murine wet-type AMD models.JCI Insight. 2018 Sep 20;3(18):e96902. doi: 10.1172/jci.insight.96902. eCollection 2018 Sep 20.
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Evolving multidimensional pharmacological approaches to CNV therapy in AMD.Curr Eye Res. 2018 Feb;43(2):147-154. doi: 10.1080/02713683.2017.1385088. Epub 2017 Nov 7.
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MFGE8 does not influence chorio-retinal homeostasis or choroidal neovascularization in vivo.PLoS One. 2012;7(3):e33244. doi: 10.1371/journal.pone.0033244. Epub 2012 Mar 15.
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Proteomics-based identification and validation of novel plasma biomarkers phospholipid transfer protein and mannan-binding lectin serine protease-1 in age-related macular degeneration.Sci Rep. 2016 Sep 8;6:32548. doi: 10.1038/srep32548.
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Haplotypes of RHO polymorphisms and susceptibility to age-related macular degeneration.Int J Clin Exp Pathol. 2015 Mar 1;8(3):3174-9. eCollection 2015.
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An association between environmental factors and the IVS4+44C>A polymorphism of the DMT1 gene in age-related macular degeneration.Graefes Arch Clin Exp Ophthalmol. 2012 Jul;250(7):1057-65. doi: 10.1007/s00417-012-1966-z. Epub 2012 Feb 29.
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Cytotoxic and genotoxic affects of acid mine drainage on fish Channa punctata (Bloch).Ecotoxicol Environ Saf. 2017 Oct;144:72-78. doi: 10.1016/j.ecoenv.2017.06.007. Epub 2017 Jun 8.
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NLRP3 Upregulation in Retinal Pigment Epithelium in Age-Related Macular Degeneration.Int J Mol Sci. 2016 Jan 8;17(1):73. doi: 10.3390/ijms17010073.
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Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.Hum Mol Genet. 2018 Oct 15;27(20):3507-3518. doi: 10.1093/hmg/ddy240.
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Impaired monocyte cholesterol clearance initiates age-related retinal degeneration and vision loss.JCI Insight. 2018 Sep 6;3(17):e120824. doi: 10.1172/jci.insight.120824. eCollection 2018 Sep 6.
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Serum starvation of ARPE-19 changes the cellular distribution of cholesterol and Fibulin3 in patterns reminiscent of age-related macular degeneration.Exp Cell Res. 2017 Dec 15;361(2):333-341. doi: 10.1016/j.yexcr.2017.10.036. Epub 2017 Oct 31.
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Connexin Hemichannel Block Using Orally Delivered Tonabersat Improves Outcomes in Animal Models of Retinal Disease.Neurotherapeutics. 2020 Jan;17(1):371-387. doi: 10.1007/s13311-019-00786-5.
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A new and effective method for human retina optic disc segmentation with fuzzy clustering method based on active contour model.Med Biol Eng Comput. 2020 Jan;58(1):25-37. doi: 10.1007/s11517-019-02032-8. Epub 2019 Aug 24.
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Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration.Int J Mol Sci. 2019 Nov 15;20(22):5750. doi: 10.3390/ijms20225750.
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Vascular adhesion protein-1 blockade suppresses choroidal neovascularization.FASEB J. 2008 Aug;22(8):2928-35. doi: 10.1096/fj.07-105346. Epub 2008 Apr 24.
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MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration.Genet Med. 2005 Apr;7(4):272-7. doi: 10.1097/01.gim.0000159903.69597.73.
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Retinal Inhibition of CCR3 Induces Retinal Cell Death in a Murine Model of Choroidal Neovascularization.PLoS One. 2016 Jun 16;11(6):e0157748. doi: 10.1371/journal.pone.0157748. eCollection 2016.
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Genetic variation in complement regulators and susceptibility to age-related macular degeneration.Immunobiology. 2012 Feb;217(2):158-61. doi: 10.1016/j.imbio.2011.09.002. Epub 2011 Oct 5.
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Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia.Ophthalmology. 2019 Mar;126(3):393-406. doi: 10.1016/j.ophtha.2018.09.045. Epub 2018 Oct 10.
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Complement factor D in age-related macular degeneration.Invest Ophthalmol Vis Sci. 2011 Nov 11;52(12):8828-34. doi: 10.1167/iovs.11-7933.
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Intra-vitreal B crystallin fused to elastin-like polypeptide provides neuroprotection in a mouse model of age-related macular degeneration.J Control Release. 2018 Aug 10;283:94-104. doi: 10.1016/j.jconrel.2018.05.014. Epub 2018 May 18.
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Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.Ophthalmic Genet. 2010 Sep;31(3):129-34. doi: 10.3109/13816810.2010.486774.
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The relevance of chemokine signalling in modulating inherited and age-related retinal degenerations.Adv Exp Med Biol. 2014;801:427-33. doi: 10.1007/978-1-4614-3209-8_54.
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Autoimmune-Mediated Retinopathy in CXCR5-Deficient Mice as the Result of Age-Related Macular Degeneration Associated Proteins Accumulation.Front Immunol. 2019 Aug 14;10:1903. doi: 10.3389/fimmu.2019.01903. eCollection 2019.
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Genome-wide analysis of disease progression in age-related macular degeneration.Hum Mol Genet. 2018 Mar 1;27(5):929-940. doi: 10.1093/hmg/ddy002.
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C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation.Sci Rep. 2018 Jan 26;8(1):1643. doi: 10.1038/s41598-017-18395-7.
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Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism.Ophthalmic Genet. 2018 Jan-Feb;39(1):68-72. doi: 10.1080/13816810.2017.1369550. Epub 2017 Sep 26.
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Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association.J Immunol. 2012 Jan 1;188(1):426-35. doi: 10.4049/jimmunol.1102545. Epub 2011 Dec 2.
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Triamcinolone regulated apopto-phagocytic gene expression patterns in the clearance of dying retinal pigment epithelial cells. A key role of Mertk in the enhanced phagocytosis.Biochim Biophys Acta. 2015 Feb;1850(2):435-46. doi: 10.1016/j.bbagen.2014.10.026. Epub 2014 Oct 27.
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Susceptibility genes for age-related maculopathy on chromosome 10q26.Am J Hum Genet. 2005 Sep;77(3):389-407. doi: 10.1086/444437. Epub 2005 Jul 26.
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An association between polymorphism of the heme oxygenase-1 and -2 genes and age-related macular degeneration.Mol Biol Rep. 2012 Mar;39(3):2081-7. doi: 10.1007/s11033-011-0955-3. Epub 2011 Jun 7.
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Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868.
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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.
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Age-related macular degeneration is associated with the HLA-Cw*0701 Genotype and the natural killer cell receptor AA haplotype.Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5077-82. doi: 10.1167/iovs.08-1837. Epub 2008 May 30.
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Dysfunctional autophagy in RPE, a contributing factor in age-related macular degeneration.Cell Death Dis. 2017 Jan 5;8(1):e2537. doi: 10.1038/cddis.2016.453.
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Wnt signaling in age-related macular degeneration: human macular tissue and mouse model.J Transl Med. 2015 Oct 17;13:330. doi: 10.1186/s12967-015-0683-x.
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Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1.Mol Ther. 2016 Feb;24(1):26-33. doi: 10.1038/mt.2015.168. Epub 2015 Sep 10.
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Choroidal neovascularization in transgenic mice expressing prokineticin 1: an animal model for age-related macular degeneration.Mol Ther. 2006 Mar;13(3):609-16. doi: 10.1016/j.ymthe.2005.08.024. Epub 2005 Nov 2.
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Association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and age-related macular degeneration.Exp Eye Res. 2012 May;98:58-66. doi: 10.1016/j.exer.2012.02.008. Epub 2012 Mar 26.
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Loss of Function of P2X7 Receptor Scavenger Activity in Aging Mice: A Novel Model for Investigating the Early Pathogenesis of Age-Related Macular Degeneration.Am J Pathol. 2017 Aug;187(8):1670-1685. doi: 10.1016/j.ajpath.2017.04.016. Epub 2017 Jun 17.
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Vascular Response to Sildenafil Citrate in Aging and Age-Related Macular Degeneration.Sci Rep. 2019 Mar 25;9(1):5049. doi: 10.1038/s41598-019-41509-2.
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Oxidative stress-induced premature senescence dysregulates VEGF and CFH expression in retinal pigment epithelial cells: Implications for Age-related Macular Degeneration.Redox Biol. 2016 Apr;7:78-87. doi: 10.1016/j.redox.2015.11.011. Epub 2015 Nov 29.
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Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology.PLoS One. 2011;6(10):e25775. doi: 10.1371/journal.pone.0025775. Epub 2011 Oct 6.
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PEDF expression affects the oxidative and inflammatory state of choroidal endothelial cells.Am J Physiol Cell Physiol. 2018 Apr 1;314(4):C456-C472. doi: 10.1152/ajpcell.00259.2017. Epub 2018 Jan 10.
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Single nucleotide polymorphism rs13079080 is associated with differential regulation of the succinate receptor 1 (SUCNR1) gene by miRNA-4470.RNA Biol. 2019 Nov;16(11):1547-1554. doi: 10.1080/15476286.2019.1643100. Epub 2019 Jul 24.
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An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration.Exp Eye Res. 2013 Jan;106:14-23. doi: 10.1016/j.exer.2012.10.003. Epub 2012 Oct 23.
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miRNAs, single nucleotide polymorphisms (SNPs) and age-related macular degeneration (AMD).Clin Chem Lab Med. 2017 May 1;55(5):763-775. doi: 10.1515/cclm-2016-0898.
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Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4027-4038. doi: 10.1167/iovs.17-21734.
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Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.Hum Mol Genet. 2014 Jun 15;23(12):3102-14. doi: 10.1093/hmg/ddu014. Epub 2014 Jan 25.
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CD36 gene is associated with intraocular pressure elevation after intravitreal application of anti-VEGF agents in patients with age-related macular degeneration: Implications for the safety of the therapy.Ophthalmic Genet. 2018 Jan-Feb;39(1):4-10. doi: 10.1080/13816810.2017.1326508. Epub 2017 May 30.
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Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility.Invest Ophthalmol Vis Sci. 2011 Mar 28;52(3):1748-54. doi: 10.1167/iovs.09-5112. Print 2011 Mar.
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Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways.Neurobiol Aging. 2014 Jun;35(6):1510.e7-18. doi: 10.1016/j.neurobiolaging.2013.12.007. Epub 2013 Dec 19.
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Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.Oncotarget. 2017 Dec 12;9(8):7812-7821. doi: 10.18632/oncotarget.23241. eCollection 2018 Jan 30.
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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29.
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The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration.PLoS One. 2014 Feb 19;9(2):e89069. doi: 10.1371/journal.pone.0089069. eCollection 2014.
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Associations between Serum Vitamin D and Genetic Variants in Vitamin D Pathways and Age-Related Macular Degeneration in the European Eye Study.Ophthalmology. 2017 Jan;124(1):90-96. doi: 10.1016/j.ophtha.2016.09.007. Epub 2016 Oct 28.
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Copy number polymorphisms in new HapMap III and Singapore populations.J Hum Genet. 2011 Aug;56(8):552-60. doi: 10.1038/jhg.2011.54. Epub 2011 Jun 16.
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Posttranslational modification by an isolevuglandin diminishes activity of the mitochondrial cytochrome P450 27A1.J Lipid Res. 2013 May;54(5):1421-9. doi: 10.1194/jlr.M035790. Epub 2013 Mar 11.
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Association study of detoxification genes in age related macular degeneration.Br J Ophthalmol. 2005 Apr;89(4):470-4. doi: 10.1136/bjo.2004.047340.
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Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.Invest Ophthalmol Vis Sci. 2006 Jan;47(1):329-35. doi: 10.1167/iovs.05-0116.
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Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration.Ophthalmic Genet. 2017 Sep-Oct;38(5):451-458. doi: 10.1080/13816810.2017.1288825. Epub 2017 Mar 1.
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GENETICS OF LARGE PIGMENT EPITHELIAL DETACHMENTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.Retina. 2020 Apr;40(4):663-671. doi: 10.1097/IAE.0000000000002454.
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Neural stem/progenitor cells circulating in peripheral blood of patients with neovascular form of AMD: a novel view on pathophysiology.Graefes Arch Clin Exp Ophthalmol. 2011 Dec;249(12):1785-94. doi: 10.1007/s00417-011-1767-9. Epub 2011 Aug 17.
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Association of Single-Nucleotide Polymorphisms in Age-Related Macular Degeneration With Pseudodrusen: Secondary Analysis of Data From the Comparison of AMD Treatments Trials.JAMA Ophthalmol. 2018 Jun 1;136(6):682-688. doi: 10.1001/jamaophthalmol.2018.1231.
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Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.PLoS One. 2013;8(1):e53830. doi: 10.1371/journal.pone.0053830. Epub 2013 Jan 11.
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Iron importers Zip8 and Zip14 are expressed in retina and regulated by retinal iron levels.Exp Eye Res. 2017 Feb;155:15-23. doi: 10.1016/j.exer.2016.12.008. Epub 2017 Jan 3.
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Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.Mol Biol Cell. 2011 Dec;22(24):4765-75. doi: 10.1091/mbc.E11-08-0695. Epub 2011 Oct 26.
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Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration.Nat Genet. 2019 Apr;51(4):606-610. doi: 10.1038/s41588-019-0351-9. Epub 2019 Feb 11.
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Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.Am J Ophthalmol. 2019 Feb;198:223-261. doi: 10.1016/j.ajo.2018.10.022. Epub 2018 Oct 31.
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Low health literacy levels in patients with chronic retinal disease.BMC Ophthalmol. 2019 Aug 8;19(1):174. doi: 10.1186/s12886-019-1191-1.
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Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration.Am J Ophthalmol. 2011 Mar;151(3):550-6.e1. doi: 10.1016/j.ajo.2010.08.048. Epub 2011 Jan 13.
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Identification of aberrantly methylated differentially expressed genes in age-related macular degeneration.Medicine (Baltimore). 2019 Apr;98(14):e15083. doi: 10.1097/MD.0000000000015083.
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Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration.Invest Ophthalmol Vis Sci. 2019 Sep 3;60(12):4041-4051. doi: 10.1167/iovs.19-27827.
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Genetic polymorphism of the iron-regulatory protein-1 and -2 genes in age-related macular degeneration.Mol Biol Rep. 2012 Jun;39(6):7077-87. doi: 10.1007/s11033-012-1539-6. Epub 2012 Feb 14.
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Adiponectin receptor 1 gene (ADIPOR1) variant is associated with advanced age-related macular degeneration in Finnish population.Neurosci Lett. 2012 Apr 4;513(2):233-7. doi: 10.1016/j.neulet.2012.02.050. Epub 2012 Feb 25.
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Transcriptome Analysis on Monocytes from Patients with Neovascular Age-Related Macular Degeneration.Sci Rep. 2016 Jul 4;6:29046. doi: 10.1038/srep29046.
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Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.J Hum Genet. 2018 Oct;63(10):1055-1070. doi: 10.1038/s10038-018-0490-3. Epub 2018 Jul 19.
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Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0.
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Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.Hum Mol Genet. 2018 Aug 1;27(15):2678-2688. doi: 10.1093/hmg/ddy178.
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