Now showing items 10-17 of 17

    • 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. (2016-11-17)
    • 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 Mark; 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 ...
    • Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells. 

      Patel, Dipali; Rorbach, Joanna; Downes, Kate; Szukszto, Maciej J; Pekalski, Marcin L; Minczuk, Michal (Nature Publishing Group, 2017-10-10)
      Mammalian mitochondria can be transferred between cells both in culture and in vivo. There is evidence that isolated mitochondria enter cells by endocytosis, but the mechanism has not been fully characterised. We investigated ...
    • 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 John; 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. (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 ...