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Article
Open AccessPost-GWAS screening of candidate genes for refractive error in mutant zebrafish models
Genome-wide association studies (GWAS) have dissected numerous genetic factors underlying refractive errors (RE) such as myopia. Despite significant insights into understanding the genetic architecture of RE, ...
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Article
Open AccessA multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morb...
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Chapter
Consortium for Refractive Error and Myopia (CREAM): Vision, Mission, and Accomplishments
The Consortium for Refractive Error and Myopia (CREAM) is an international collaboration founded to increase knowledge on the genetic background of refractive error and myopia. The consortium was established i...
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Chapter
The Genetics of Myopia
Myopia is the most common eye condition worldwide and its prevalence is increasing. While changes in environment, such as time spent outdoors, have driven myopia rates, within populations myopia is highly heri...
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Article
Open AccessGenome-wide association study of primary open-angle glaucoma in continental and admixed African populations
Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations ...
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Article
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replicat...
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Article
The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription
The t(12;22) creates an MN1–TEL fusion gene leading to acute myeloid leukemia. The fusion partner TEL (ETV6) is a member of the ETS family of transcription factors. The nature of the other fusion partner, MN1, ha...