Now showing items 8-15 of 15

    • Increased DNA methylation variability in type 1 diabetes across three immune effector cell types 

      Paul, Dirk Stefan; Teschendorff, AE; Dang, MAN; Lowe, R; Hawa, MI; Ecker, S; Beyan, H et al. (Nature Publishing Group, 2016-11-29)
      The incidence of type 1 diabetes (T1D) has substantially increased over the past decade, suggesting a role for non-genetic factors such as epigenetic mechanisms in disease development. Here we present an epigenome-wide ...
    • Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters 

      Javierre, Biola M.; Burren, Oliver S.; Wilder, Steven P.; Kreuzhuber, Roman; Hill, Steven M.; Sewitz, Sven; Cairns, Jonathan et al. (Elsevier (Cell Press), 2016-11-17)
      Long-range interactions between regulatory elements and gene promoters play key roles in transcriptional regulation. The vast majority of interactions are uncharted, constituting a major missing link in understanding genome ...
    • Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters. 

      Javierre, Biola M; Burren, Oliver S; Wilder, Steven P; Kreuzhuber, Roman; Hill, Steven M; Sewitz, Sven; Cairns, Jonathan et al. (2016-11)
    • 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, 2017-03)
      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 ...
    • 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 ...
    • The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes 

      Cooper, Jason D.; Smyth, Deborah J.; Bailey, Rebecca; Payne, Felicity; Downes, Kate; Godfrey, Lisa M.; Masters, Jennifer et al. (2007-11-28)
      Abstract Background As genes associated with immune-mediated diseases have an increased prior probability of being associated with other immune-mediated diseases, we tested three such genes, IL23R, IRF5 and CD40, for an ...
    • Transcriptional diversity during lineage commitment of human blood progenitors 

      Chen, Lu; Kostadima, Myrto; Martens, Joost H.A.; Canu, Giovanni; Garcia, Sara P.; Turro, Ernest; Downes, Kate et al. (AAAS, 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 ...