Bringing age-related macular degeneration into focus

Complement factor H polymorphism in age-related macular degeneration

Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492 · see citing works

Complement factor H polymorphism and age-related macular degeneration

Edwards, A. O., Ritter, R., Abel, K. J., Manning, A., Panhuysen, C., & Farrer, L. A. (2005) · Science · doi:10.1126/science.1110189 · Cited by 2,449 · see citing works

Complement factor H variant increases the risk of age-related macular degeneration

Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Kwan, S. Y., Noureddine, M., Gilbert, J. R., et al. (2005) · Science · doi:10.1126/science.1110359 · Cited by 2,424 · see citing works

A common haplotype in the complement regulatory gene factor H ( <i>HF1/CFH</i> ) predisposes individuals to age-related macular degeneration

Hageman, G. S., Anderson, D. H., Johnson, L. V., Hancox, L. S., Taiber, A. J., Hardisty, L. I., Hageman, J. L., Stockman, H. A., Borchardt, J. D., Gehrs, K. M., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501536102 · Cited by 1,961 · see citing works

Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration

Allikmets, R. L., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A. P., Zabriskie, N. A., Li, Y., Hutchinson, A. A., et al. (1997) · Science · doi:10.1126/science.277.5333.1805 · Cited by 879 · see citing works

<i>HTRA1</i> Promoter Polymorphism in Wet Age-Related Macular Degeneration

DeWan, A., Liu, M., Hartman, S., Zhang, S. S.-M., Liu, D. T. L., Zhao, C., Tam, P. O. S., Chan, W. M., Lam, D. S. C., Snyder, M., et al. (2006) · Science · doi:10.1126/science.1133807 · Cited by 876 · see citing works

A Variant of the <i>HTRA1</i> Gene Increases Susceptibility to Age-Related Macular Degeneration

Yang, Z., Camp, N. J., Sun, H., Tong, Z., Gibbs, D., Cameron, D. J., Chen, H., Zhao, Y., Pearson, E., Li, X., et al. (2006) · Science · doi:10.1126/science.1133811 · Cited by 796 · see citing works

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

Rivera, A., Fisher, S. A., Fritsche, L. G., Keilhauer, C. N., Lichtner, P., Meitinger, T., & Weber, B. H. F. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi353 · Cited by 788 · see citing works

Susceptibility genes for age-related maculopathy on chromosome 10q26

Jakobsdottir, J., Conley, Y. P., Weeks, D. E., Mah, T. S., Ferrell, R. E., & Gorin, M. B. (2005) · The American Journal of Human Genetics · doi:10.1086/444437 · Cited by 470 · see citing works

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

Kanda, A., Chen, W., Othman, M., Branham, K. E. H., Brooks, M., Khanna, R., He, S., Lyons, R., Abecasis, G. R., & Swaroop, A. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0703933104 · Cited by 441 · see citing works

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

Fritsche, L. G., Loenhardt, T., Janssen, A., Fisher, S. A., Rivera, A., Keilhauer, C. N., & Weber, B. H. F. (2008) · Nature Genetics · doi:10.1038/ng.170 · Cited by 400 · see citing works

Complement activation by photooxidation products of A2E, a lipofuscin constituent of the retinal pigment epithelium

Zhou, J., Jang, Y. P., Kim, S. R., & Sparrow, J. R. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0604255103 · Cited by 358 · see citing works

Meta-analysis of genome scans of age-related macular degeneration

Fisher, S. A., Abecasis, G. R., Yashar, B. M., Zareparsi, S., Swaroop, A., Iyengar, S. K., Klein, B. E. K., Klein, R., Lee, K. E., Majewski, J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi230 · Cited by 239 · see citing works

Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration

Canter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., Schmidt, S., Postel, E. A., Agarwal, A., Pericak-Vance, M. A., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002091 · Cited by 110 · see citing works

Bringing the genetics of macular degeneration into focus

Haines, J. L., Spencer, K. M., & Pericak-Vance, M. A. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708151104 · Cited by 15 · see citing works

Age-related macular degeneration

Coleman, H. R., Chan, C.-C., Ferris, F. L., & Chew, E. Y. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61759-6 · Cited by 542 · see citing works

Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response

Kozyra, M., Ingelman‐Sundberg, M., & Lauschke, V. M. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.33 · Cited by 230 · see citing works

Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

Vilardell, M., Rasche, A., Thormann, A., Maschke-Dutz, E., Jurado, L. A. P., Lehrach, H. R., & Herwig, R. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-229 · Cited by 127 · see citing works

Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator

Micklisch, S., Lin, Y., Jacob, S., Karlstetter, M., Dannhausen, K., Dasari, P., von der Heide, M., Dahse, H., Schmölz, L., Graßmann, F., et al. (2017) · Journal of Neuroinflammation · doi:10.1186/s12974-016-0776-3 · Cited by 101 · see citing works

Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines

Yang, J. Y., Li, Y., Chan, L., Tsai, Y.-T., Wu, W.-H., Nguyen, H. V., Hsu, C., Li, X., Brown, L. M., Egli, D. M., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu053 · Cited by 97 · see citing works

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Ansari, M., McKeigue, P., Skerka, C., Hayward, C., Rudan, I., Vitart, V., Polašek, O., Armbrecht, A.-M., Yates, J. R. W., Vatavuk, Z., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt336 · Cited by 88 · see citing works

Progression of Geographic Atrophy and Genotype in Age-Related Macular Degeneration

Klein, M. L., Ferris, F. L., Francis, P. J., Lindblad, A. S., Chew, E. Y., Hamon, S., & Ott, J. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2009.12.012 · Cited by 83 · see citing works

Multilocus analysis of age-related macular degeneration

Sawitzke, J., Gold, B., Olsh, A., Schlotterbeck, S., Lemon, K., Visvanathan, K., Allikmets, R. L., & Dean, M. C. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.23 · Cited by 82 · see citing works

Tilting at Quixotic Trait Loci (QTL): An Evolutionary Perspective on Genetic Causation

Weiss, K. M. (2008) · Genetics · doi:10.1534/genetics.108.094128 · Cited by 75 · see citing works

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency

Friedrich, U., Myers, C. A., Fritsche, L. G., Milenkovic, A., Wolf, A., Corbo, J. C., & Weber, B. H. F. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr020 · Cited by 74 · see citing works

Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration

Hageman, G. S., Gehrs, K. M., Lejnine, S., Bansal, A. T., DeAngelis, M. M., Guymer, R. H., Baird, P. N., Allikmets, R. L., Deciu, C., Oeth, P. A., et al. (2011) · Human Genomics · doi:10.1186/1479-7364-5-5-420 · Cited by 57 · see citing works

The role of CRP and inflammation in the pathogenesis of age-related macular degeneration

Čolak, E., Majkić‐Singh, N., Zoric, L. D., Radosavljević, A., & Kosanović-Jaković, N. (2012) · Biochemia Medica · doi:10.11613/bm.2012.005 · Cited by 45 · see citing works

Ongoing controversies and recent insights of the ARMS2-HTRA1 locus in age-related macular degeneration

May, A., Su, F., Dinh, B., Ehlen, R., Tran, C., Adivikolanu, H., & Shaw, P. X. (2021) · Experimental Eye Research · doi:10.1016/j.exer.2021.108605 · Cited by 29 · see citing works

Culture of Highly Differentiated Human Retinal Pigment Epithelium for Analysis of the Polarized Uptake, Processing, and Secretion of Retinoids

Hu, J., & Bok, D. (2010) · Methods in Molecular Biology · doi:10.1007/978-1-60327-325-1_2 · Cited by 24 · see citing works

A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland – a brief report

Teper, S. J., Nowińska, A., & Wylęgała, E. (2012) · Medical Science Monitor · doi:10.12659/msm.882447 · Cited by 19 · see citing works

Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle?

Körtvely, E., & Ueffing, M. (2015) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-17121-0_4 · Cited by 11 · see citing works

From association to causality: the new frontier for complex traits

Katsanis, N. (2009) · Genome Medicine · doi:10.1186/gm23 · Cited by 8 · see citing works

Genetics of Age-Related Macular Degeneration

Kasuga, D. T., Chen, Y., & Zhang, K. (2011) · Springer eBooks · doi:10.1007/978-1-4614-0125-4_1 · Cited by 7 · see citing works

Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients

Capoluongo, E., Concolino, P., Piccardi, M., Marangoni, D., Mello, E., Minnella, A. M., Savastano, M. C., Fadda, A., Zuppi, C., Bisti, S., et al. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.03.008 · Cited by 6 · see citing works

Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations—An In-Silico Study

Cevik, S., Biswas, S. B., & Biswas, E. E. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24087280 · Cited by 6 · see citing works

The Chromosome 10q26 Susceptibility Locus in Age-Related Macular Degeneration

Stanton, C. M., Chalmers, K. J., & Wright, A. F. (2011) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-0631-0_47 · Cited by 4 · see citing works

Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients

Bardak, H., Günay, M., Erçalık, Y., Bardak, Y., Özbaş, H., & Bağcı, Ö. (2017) · Genetics and Molecular Research · doi:10.4238/gmr16019135 · Cited by 2 · see citing works

Deciphering the impact of ABCA4 genetic variants of unknown significance in inherited retinal disease through computational and functional approaches

Cevik, S., Jones, J. S., Biswas, S. B., & Biswas, E. E. (2025) · Advances in protein chemistry and structural biology · doi:10.1016/bs.apcsb.2024.12.003 · Cited by 1 · see citing works

Zwyrodnienie plamki związane z wiekiem. Część I: epidemiologia, patogeneza, aspekty genetyczne i profilaktyka

Jarmak, A. (2014) · OphthaTherapy Therapies in Ophthalmology

Untersuchungen zu den molekularen Ursachen von Erkrankungen der Netzhaut - Die X-gebundene juvenile Retinoschisis und die altersabhängige Makuladegeneration

Biologie, F. F. (2011)

Untersuchungen zu den genetischen Ursachen der altersabhängigen Makuladegeneration (AMD)

Fritsche, L. G. (2009) · University of Regensburg Publication Server (University of Regensburg) · doi:10.5283/epub.12354

Chromosome 10q26 locus and age-related macular degeneration: A progress update

Wang, G. (2013) · Experimental Eye Research · doi:10.1016/j.exer.2013.11.009 · Cited by 45 · see citing works

10q26 – The enigma in age-related macular degeneration

Merle, D. A., Sen, M., Armento, A., Stanton, C. M., Thee, E. F., Meester‐Smoor, M. A., Kaiser, M., Clark, S. J., Klaver, C. C. W., Keane, P. A., et al. (2022) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2022.101154 · Cited by 15 · see citing works

Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics

Gorin, M. B. (2012) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2012.04.004 · Cited by 105 · see citing works

Linkage analysis for age-related macular degeneration supports a gene on chromosome 10Q26

Kenealy, S. J., Schmidt, S., Agarwal, A., Postel, E. A., DELAPAZ, M., Pericak‐Vance, M. A., & Haines, J. L. (2004) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(04)00176-x · Cited by 82 · see citing works

The Challenges and Surprises of Studying the Genetics of Age-Related Macular Degeneration

Traboulsi, E. I. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.01.045 · Cited by 15 · see citing works