Advancing the use of genome-wide association studies for drug repurposing
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …
complex diseases, which are broadly expected to lead to the identification of new drug …
Age-related macular degeneration
Age-related macular degeneration (AMD) is the leading cause of legal blindness in the
industrialized world. AMD is characterized by accumulation of extracellular deposits, namely …
industrialized world. AMD is characterized by accumulation of extracellular deposits, namely …
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …
researchers to better identify and interpret causal genes in many diseases. However, there …
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease.
Previous genome-wide association studies have identified over 100 loci for the most …
Previous genome-wide association studies have identified over 100 loci for the most …
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-
wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
Refractive errors, in particular myopia, are a leading cause of morbidity and disability
worldwide. Genetic investigation can improve understanding of the molecular mechanisms …
worldwide. Genetic investigation can improve understanding of the molecular mechanisms …
Increased LCN2 (lipocalin 2) in the RPE decreases autophagy and activates inflammasome-ferroptosis processes in a mouse model of dry AMD
In dry age-related macular degeneration (AMD), LCN2 (lipocalin 2) is upregulated. Whereas
LCN2 has been implicated in AMD pathogenesis, the mechanism remains unknown. Here …
LCN2 has been implicated in AMD pathogenesis, the mechanism remains unknown. Here …
HRT Atlas v1. 0 database: redefining human and mouse housekeeping genes and candidate reference transcripts by mining massive RNA-seq datasets
BW Hounkpe, F Chenou, F de Lima… - Nucleic acids …, 2021 - academic.oup.com
Housekeeping (HK) genes are constitutively expressed genes that are required for the
maintenance of basic cellular functions. Despite their importance in the calibration of gene …
maintenance of basic cellular functions. Despite their importance in the calibration of gene …
Retinal organoids: a window into human retinal development
M O'Hara-Wright, A Gonzalez-Cordero - Development, 2020 - journals.biologists.com
Retinal development and maturation are orchestrated by a series of interacting signalling
networks that drive the morphogenetic transformation of the anterior developing brain …
networks that drive the morphogenetic transformation of the anterior developing brain …
[HTML][HTML] Integration of eQTL and a single-cell atlas in the human eye identifies causal genes for age-related macular degeneration
Age-related macular degeneration (AMD) is a leading cause of vision loss. To better
understand disease pathogenesis and identify causal genes in GWAS loci for AMD risk, we …
understand disease pathogenesis and identify causal genes in GWAS loci for AMD risk, we …