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  • Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia. 

    Pleines, Irina; Woods, Joanne; Chappaz, Stephane; Kew, Verity; Foad, Nicola; Ballester-Beltrán, José; Aurbach, Katja et al. (American Society for Clinical Investigation, 2017-01-30)
    Platelets are anuclear cells that are essential for blood clotting. They are produced by large polyploid precursor cells called megakaryocytes. Previous genome-wide association studies in nearly 70,000 individuals indicated ...
  • Rare variants in $\textit{GP1BB}$ are responsible for autosomal dominant macrothrombocytopenia 

    Sivapalaratnam, S; Westbury, SK; Stephens, JC; Greene, D; Downes, K; Kelly, AM; Lentaigne, C et al. (American Society of Hematology, 2017-01-26)
    The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss ...
  • Epigenetic gene regulation by Janus kinase 1 in diffuse large B-cell lymphoma 

    Rui, L; Drennan, AC; Ceribelli, M; Zhu, F; Wright, GW; Huang, DW; Xiao, W et al. (National Academy of Sciences, 2016-11-15)
    Janus kinases (JAKs) classically signal by activating STAT transcription factors but can also regulate gene expression by epigenetically phosphorylating histone H3 on tyrosine 41 (H3Y41-P). In diffuse large B-cell lymphomas ...
  • Acknowledging Errors: Advanced Molecular Replacement with Phaser 

    McCoy, Airlie J. (Springer, 2016)
    Molecular replacement is a method for solving the crystallographic phase problem using an atomic model for the target structure. State-of-the-art methods have moved the field significantly from when it was first envisaged ...

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