Now showing items 14-16 of 16

    • Platelet function is modified by common sequence variation in megakaryocyte super enhancers 

      Petersen, R; Lambourne, John Joseph; Javierre, BM; Grassi, Luigi; Kreuzhuber, R; Ruklisa, Dace; Rosa, IM et al. (Springer Nature, 2017-07-13)
      Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to ...
    • Rare variants in $\textit{GP1BB}$ are responsible for autosomal dominant macrothrombocytopenia 

      Sivapalaratnam, Suthesh; Westbury, SK; Stephens, JC; Greene, Daniel; Downes, Kate; 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 ...
    • Transcriptional diversity during lineage commitment of human blood progenitors 

      Chen, Lu; Kostadima, Myrto; Martens, Joost HA; Canu, Giovanni; Garcia, Sara P; Turro, Ernest; Downes, Kate et al. (2014-09-26)
      Blood cells derive from hematopoietic stem cells through stepwise fating events. To characterize gene expression programs driving lineage choice, we sequenced RNA from eight primary human hematopoietic progenitor populations ...