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Showing 1–7 of 7 results
Advanced filters: Author: Wing-Lee Chan Clear advanced filters

  • A Pitx1 enhancer shows activity in forelimbs and hindlimbs but only interacts with Pitx1 in hindlimbs because of its three-dimensional configuration. Structural variants that affect three-dimensional conformation induce Pitx1 expression in forelimbs and cause partial arm-to-leg transformation in mice and humans.

    • Bjørt K. Kragesteen
    • Malte Spielmann
    • Guillaume Andrey
    Research
    Nature Genetics
    Volume: 50, P: 1463-1473

  • Genomic duplications in the SOX9 region are associated with human disease phenotypes; a study using human cells and mouse models reveals that the duplications can cause the formation of new higher-order chromatin structures called topologically associated domains (TADs) thereby resulting in changes in gene expression.

    • Martin Franke
    • Daniel M. Ibrahim
    • Stefan Mundlos
    Research
    Nature
    Volume: 538, P: 265-269

  • Stefan Mundlos, Darío Lupiáñez and colleagues investigate CNVs involving the regulatory landscape of IHH (Indian hedgehog), which cause craniosynostosis and synpolydactyly. Using genetic manipulation in mice, they show that Ihh is regulated by at least nine enhancers with individual tissue specificities and that duplications in this region can cause dose-dependent upregulation and also misexpression of Ihh.

    • Anja J Will
    • Giulia Cova
    • Stefan Mundlos
    Research
    Nature Genetics
    Volume: 49, P: 1539-1545