The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration.

Autor: Ratnapriya R; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA. rpriya@bcm.edu.

Publikováno v: Advances in experimental medicine and biology [Adv Exp Med Biol] 2023; Vol. 1415, pp. 61-66.

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.

Autor: Kwong A; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109, United States., Zawistowski M; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109, United States., Fritsche LG; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109, United States., Zhan X; Southwestern Medical Center, University of Texas, 5323 Harry Hines Blvd, Dallas, TX 75390, United States., Bragg-Gresham J; Kidney Epidemiology and Cost Center, Department of Internal Medicine-Nephrology, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109, United States., Branham KE; Department of Ophthalmology and Visual Sciences, University of Michigan Kellogg Eye Center, 1000 Wall St, Ann Arbor, MI 48105, United States., Advani J; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, MSC 0610, Bethesda, MD 20892, United States., Othman M; Department of Ophthalmology and Visual Sciences, University of Michigan Kellogg Eye Center, 1000 Wall St, Ann Arbor, MI 48105, United States., Ratnapriya R; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, MSC 0610, Bethesda, MD 20892, United States., Teslovich TM; Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Rd, Tarrytown, NY 10591, United States., Stambolian D; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania Medical School, 51 N. 39th Street, Philadelphia, PA 19104, United States., Chew EY; Division of Epidemiology and Clinical Application, National Eye Institute, National Institutes of Health, 10 Center Drive Building 10-CRC, Bethesda, MD 20892, United States., Abecasis GR; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109, United States.; Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Rd, Tarrytown, NY 10591, United States., Swaroop A; Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, MSC 0610, Bethesda, MD 20892, United States.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2024 Feb 01; Vol. 33 (4), pp. 374-385.

QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.

Autor: Advani J; National Eye Institute, National Institutes of Health., Corso-Diaz X; National Eye Institute., Kwicklis M; National Eye Institute, National Institutes of Health., van Asten F; National Eye Institute, National Institutes of Health., Ratnapriya R; National Eye Institute, National Institutes of Health., Mehta P; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA., Hamel A; Department of Ophthalmology, Massachusetts Eye and Ear., Mahrotra S; Mass Eye and Ear, Harvard Med Sch., Segrè A; Massachusetts Eye and Ear., Kiel C; University of Regensburg., Strunz T; University of Regensburg., Weber B; University of Regensburg., Chew E; National Eye Institute/National Institutes of Health., Hernandez D; National Institutes of Health., Montezuma S; University of Minnesota., Ferrington D; University of Minnesota., Swaroop A; National Eye Institute, National Institutes of Health.

Publikováno v: Research square [Res Sq] 2023 Jun 16. Date of Electronic Publication: 2023 Jun 16.

Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16

Autor: Keenan, T.D., Agron, E., Domalpally, A., Clemons, T.E., Asten, F. van, Wong, W.T., Danis, R.G., Sadda, S., Rosenfeld, P.J., Klein, M.L., Ratnapriya, R., Swaroop, A., Ferris, F.L., 3rd, Chew, E.Y.

Publikováno v: Ophthalmology, 125, 12, pp. 1913-1928
Ophthalmology, 125, 1913-1928

Item does not contain fulltext PURPOSE: To analyze the prevalence, incidence, and clinical characteristics of eyes with geographic atrophy (GA) in age-related macular degeneration (AMD), including clinical and genetic factors affecting enlargement. D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f1774940dbfbaf4e158aece301fe33ad
https://doi.org/10.1016/j.ophtha.2018.05.028

A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14

Autor: Asten, F. van, Simmons, M., Singhal, A., Keenan, T.D., Ratnapriya, R., Agron, E., Clemons, T.E., Swaroop, A., Lu, Z., Chew, E.Y.

Publikováno v: Ophthalmology, 125, 4, pp. 559-568
Ophthalmology, 125, 559-568

Item does not contain fulltext PURPOSE: Age-related macular degeneration (AMD), a multifactorial disease with variable phenotypic presentation, was associated with 52 single nucleotide polymorphisms (SNPs) at 34 loci in a genome-wide association stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::938c69cc037a5fc5314d0855bb70a24e
https://hdl.handle.net/2066/191228