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Showing 1–4 of 4 results
Advanced filters: Author: Peter A Smethurst Clear advanced filters

  • Citizen science taps the efforts of non-experts. Here, authors describe Drugit, an extension of the crowdsourcing game Foldit, and its use in designing a non-peptide binder of Von Hippel Lindau E3 ligase for use with proteolysis targeting chimeras.

    • Thomas Scott
    • Christian Alan Paul Smethurst
    • Rocco Moretti
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-11

  • Cornelis Albers, Cedric Ghevaert and colleagues report that a majority of thrombocytopenia with absent radii (TAR) syndrome cases are caused by compound heterzygosity of a null allele and a low-frequency SNP in the regulatory regions of the RBM8A gene, which encodes the Y14 subunit of the exon-junction complex (EJC). TAR syndrome is the first reported human disorder caused by a defect in an EJC component.

    • Cornelis A Albers
    • Dirk S Paul
    • Cedric Ghevaert
    Research
    Nature Genetics
    Volume: 44, P: 435-439