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Integrated bioinformatics analysis of aberrantly-methylated differentially-expressed genes and pathways in age-related macular degeneration
2020
BMC Ophthalmology
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Age-related macular degeneration (AMD) represents the leading cause of visual impairment in the aging population. ...
Functional enrichment and protein-protein interaction (PPI) network analysis were performed using the R package and Search Tool for the Retrieval of Interacting Genes online database. ...
Availability of data and materials The datasets analysed during the current study are available in the Gene Expression Omnibus (GEO, https://www.ncbi. nlm.nih.gov/geo/) of the National Center for Biotechnology ...
doi:10.1186/s12886-020-01392-2
pmid:32209064
fatcat:b6gtehybv5a4hbxddj6kp2ginq
From Disease Genes to Cellular Pathways: A Progress Report
[chapter]
2008
Novartis Foundation symposium
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We are, therefore, generating comprehensive gene expression profiles of retina and RPE of humans and mice using both cDNA-and oligonucleotide-based (Affymetrix) microarrays. ...
Mutations in a large number of retinal and retinal pigment epithelium (RPE) expressed genes can lead to the degeneration of photoreceptors and consequently the loss of vision. ...
Acknowledgements We thank Mohammad Othman and Sean MacNee for their advice and assistance. The research in our laboratory is supported by grants from the National Institutes of Health ...
doi:10.1002/0470092645.ch11
fatcat:loqarvtarbd5ngnz3anczhgdje
Identification of candidate genes for human retinal degeneration loci using differentially expressed genes from mouse photoreceptor dystrophy models
2008
Molecular Vision
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To assign possible disease genes to RD loci, we have used a comparative genomics procedure that incorporates microarray gene expression data of three independent mouse models for photoreceptor dystrophy ...
PLA2G7 (phospholipase A2, group VII; PAF-AH, Lp-PLA2), a candidate for a dominant form macular dystrophy (Benign Concentric Annular Macular Dystrophy [BCMAD]), was selected for further study. ...
be determined and, in addition, yet to be discovered new loci for various monogenic and complex RDs such as age-related macular degeneration (AMD) and diabetic retinopathy. ...
pmid:18776951
pmcid:PMC2529471
fatcat:qkrcuydwzfhyho3suglo5edddi
Can the silkworm (Bombyx mori) be used as a human disease model?
2016
Drug Discoveries & Therapeutics
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strain using microarray analysis. ...
For example, the human macular carotenoid transporter was discovered using information of B. mori carotenoid transporter derived from yellow-cocoon strain. ...
This work was supported by Funds by the Japan Society for the Promotion of Science (JSPS) Grant-in-Aid for Scientific Research C (26450465). ...
doi:10.5582/ddt.2016.01011
pmid:26853920
fatcat:fdoicwvlt5b6rj7lmjbvf4z5wu
Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks
2012
Genome Medicine
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Age-related macular degeneration (AMD) is a leading cause of blindness that affects the central region of the retinal pigmented epithelium (RPE), choroid, and neural retina. ...
Selected genes of high significance were validated using an independent donor cohort. ...
The age-related form of macular degeneration (AMD) is the leading cause of irreversible blindness in developed countries, and it is now estimated that 6.5% of the US population, aged 40 years and older ...
doi:10.1186/gm315
pmid:22364233
pmcid:PMC3372225
fatcat:kqcgzl22mre3ti46va6hvab4za
Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks
2012
Genome Medicine
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Age-related macular degeneration (AMD) is a leading cause of blindness that affects the central region of the retinal pigmented epithelium (RPE), choroid, and neural retina. ...
Selected genes of high significance were validated using an independent donor cohort. ...
The age-related form of macular degeneration (AMD) is the leading cause of irreversible blindness in developed countries, and it is now estimated that 6.5% of the US population, aged 40 years and older ...
doi:10.1186/preaccept-1418491035586234
fatcat:rduesftlg5gaherwvghrid5qpm
EyeDiseases: an integrated resource for dedicating to genetic variants, gene expression and epigenetic factors of human eye diseases
2021
NAR Genomics and Bioinformatics
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Additionally, integrating analysis of Age-related macular degeneration (AMD) GWAS loci and co-expression data revealed 9 associated genes involved in HIF-1 signaling pathway and voltage-gate potassium ...
The EyeDiseases provides a valuable resource for accelerating the discovery and validation of candidate loci and genes contributed to the molecular diagnosis and therapeutic vulnerabilities with various ...
ACKNOWLEDGEMENTS We thank Dr Ran Fan and Yiqi Technology for valuable assistance in this project. ...
doi:10.1093/nargab/lqab050
pmid:34085038
pmcid:PMC8168129
fatcat:257t34wf5jacjd4vttmt2kw6bq
Functional annotation of the human retinal pigment epithelium transcriptome
2009
BMC Genomics
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Our data sheds new light on the molecular composition of BM, adjacent to the RPE, and is useful for candidate retinal disease gene identification or gene dose-dependent therapeutic studies. ...
in age-related macular degeneration, and other signaling pathways. ...
Pels and co-workers of the Corneabank, Amsterdam, for providing donor eyes. ...
doi:10.1186/1471-2164-10-164
pmid:19379482
pmcid:PMC2679759
fatcat:i2wyo277zvf2raruy7pctdnnmm
Advances in the genomics of common eye diseases
2013
Human Molecular Genetics
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Agerelated macular degeneration (AMD), diabetic retinopathy (DR), glaucoma and myopia account for the majority of visual impairment worldwide. ...
Three types of glaucoma, primary-open-angle glaucoma (POAG), angle-closure glaucoma and exfoliation syndrome (XFS) glaucoma, are common age-related conditions. ...
Conflict of Interest statement. None declared. ...
doi:10.1093/hmg/ddt396
pmid:23962718
pmcid:PMC3782072
fatcat:e6onz3qlvjfmzldxx5d7ias3eu
Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association withVEGF,VLDLR, andLRP6
2006
Investigative Ophthalmology and Visual Science
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Age-related macular degeneration (AMD) is a retinal degenerative disease that is the leading cause of blindness worldwide for individuals over the age of 60. ...
Identification of the underlying genes has been difficult, with both genomic screen (locational) and candidate gene (functional) approaches being used. ...
The authors thank Melissa Allen for diligently genotyping the markers, and Ruth Domurath, Molly Klein, Jennifer Caldwell, and Katie Haynes for their tireless work in ascertaining data on many of the families ...
doi:10.1167/iovs.05-0116
pmid:16384981
fatcat:th3vsy6uhjafhnak2unasmgswy
Genetics of Age-Related Macular Degeneration: Current Concepts, Future Directions
2011
Seminars in Ophthalmology
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Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. ...
Although much remains elusive about the etiology of age-related macular degeneration (AMD), it has long been clear that genetics plays an important role. ...
Acknowledgments The authors alone are responsible for the content and writing of the paper. ...
doi:10.3109/08820538.2011.577129
pmid:21609220
pmcid:PMC4242505
fatcat:ifjffx3zp5awjfkpzujwi74ahq
Defining the Human Macula Transcriptome and Candidate Retinal Disease Genes UsingEyeSAGE
2006
Investigative Ophthalmology and Visual Science
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EyeSAGE was used to identify retina-and RPE-specific and -associated genes, and candidate genes for retina and RPE disease loci. ...
using serial analysis of gene expression (SAGE). ...
Identifying such adaptations should help us understand why rods degenerate before cones in aging and early age-related macular degeneration (AMD). 1-3 EyeSAGE provides a new platform for addressing such ...
doi:10.1167/iovs.05-1437
pmid:16723438
pmcid:PMC2813776
fatcat:c27a3garkbbojnnhbbtrsziewu
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
2013
Genome Medicine
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In this review, we focus on the genetic characterization of retinal and macular degeneration using NGS technology and discuss the basic framework for further investigations. ...
In mouse and human retinas, rods constitute over 95% of the photoreceptors and are responsible for night vision; whereas different cone sub-types (red, long wave-length (L); green, ...
Acknowledgements We thank Dr Emily Chew (National Eye Institute, National Institutes of Health, Bethesda, MD) for providing the fundus photograph of the human retina. ...
doi:10.1186/gm488
pmid:24112618
pmcid:PMC4066589
fatcat:7ex2xlehy5ftbkd6q7zzrhtrtq
Translational Epidemiology in Ophthalmology: From Etiologic Research to Personalized Health Impact
2012
Translational Vision Science & Technology
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, age-related macular degeneration, and diabetic retinopathy. ...
Many of these genes are responsible for rare diseases, but several recent discoveries using the large-scale genome-wide association approach have identified genes that contribute to common age-related ...
doi:10.1167/tvst.1.2.1
pmid:24049701
pmcid:PMC3763876
fatcat:jcxiqkmo45hlbkkw4gsg23oew4
Circulating miRNAs as Potential Biomarkers of Age-Related Macular Degeneration
2017
Cellular Physiology and Biochemistry
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Backgroud: Age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness of the elder people. ...
All the data were imported into SPSS software and the ROC curve was used for the diagnostic Fig. 3. ...
Introduction Age-related macular degeneration (AMD) is currently one of the leading causes of visual impairment and blindness throughout the world [1] . ...
doi:10.1159/000467941
pmid:28315863
fatcat:upi4dgphqjgappctkvumy7oeuu
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