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  1. Article

    Open Access

    Post-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, ...

    Wim H. Quint, Kirke C. D. Tadema, Nina C. C. J. Kokke in Scientific Reports (2023)

  2. Article

    Open Access

    A 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...

    Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya in Communications Biology (2021)

  3. No Access

    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...

    Annechien E. G. Haarman, Milly S. Tedja in Advances in Vision Research, Volume III (2021)

  4. 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...

    Milly S. Tedja, Annechien E. G. Haarman, Magda A. Meester-Smoor in Updates on Myopia (2020)

  5. Article

    Open Access

    Genome-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 ...

    Pieter W. M. Bonnemaijer, Adriana I. Iglesias, Girish N. Nadkarni in Human Genetics (2018)

  6. No Access

    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...

    Milly S. Tedja, Robert Wojciechowski, Pirro G. Hysi, Nicholas Eriksson in Nature Genetics (2018)

  7. No Access

    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...

    Karel H M van Wely, Anco C Molijn, Arjan Buijs, Magda A Meester-Smoor in Oncogene (2003)