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Welcome to the research outputs of the University of Exeter Institute of Biomedical & Clinical Science, part of the University of Exeter Medical School

Recent Submissions

  • Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons 

    Pilling, LC; Joehanes, R; Kacprowski, T; Peters, M; Jansen, R; Karasik, D; Kiel, DP; Harries, LW; Teumer, A; Powell, J; Levy, D; Lin, H; Lunetta, K; Munson, P; Bandinelli, S; Henley, W; Hernandez, D; Singleton, A; Tanaka, T; van Grootheest, G; Hofman, A; Uitterlinden, AG; Biffar, R; Gläser, S; Homuth, G; Malsch, C; Völker, U; Penninx, B; van Meurs, JBJ; Ferrucci, L; Kocher, T; Murabito, J; Melzer, D (American Physiological Society, 2016-01-01)
    Lower muscle strength in midlife predicts disability and mortality in later life. Blood-borne factors, including growth differentiation factor 11 (GDF11), have been linked to muscle regeneration in animal models. We aimed ...
  • NPTX2 and cognitive dysfunction in Alzheimer’s Disease 

    Xiao, M; Xu, D; Craig, MT; Pelkey, KA; Chien, C; Shi, Y; Zhang, J; Resnick, S; Pletnikova, O; Salmon, D; Brewer, J; Edland, S; Wegiel, J; Tycko, B; Savonenko, A; Reeves, RH; Troncoso, JC; McBain, CJ; Galasko, D; Worley, PF (eLife Sciences Publications, 2017-03-23)
    Memory loss in Alzheimer’s disease (AD) is attributed to pervasive weakening and loss of synapses. Here, we present findings supporting a special role for excitatory synapses connecting pyramidal neurons of the hippocampus ...
  • Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2. 

    Cabezas, OR; Flanagan, SE; Stanescu, H; García-Martínez, E; Caswell, R; Lango-Allen, H; Antón-Gamero, M; Argente, J; Bussell, A-M; Brandli, A; Cheshire, C; Crowne, E; Dumitriu, S; Drynda, R; Hamilton-Shield, JP; Hayes, W; Hofherr, A; Iancu, D; Issler, N; Jefferies, C; Jones, P; Johnson, M; Kesselheim, A; Klootwijk, E; Koettgen, M; Lewis, W; Martos, JM; Mozere, M; Norman, J; Patel, V; Parrish, A; Pérez-Cerdá, C; Pozo, J; Rahman, SA; Sebire, N; Tekman, M; Turnpenny, PD; Hoff, WV; Viering, DHHM; Weedon, MN; Wilson, P; Guay-Woodford, L; Kleta, R; Hussain, K; Ellard, S; Bockenhauer, D (American Society of Nephrology -, 2017-04-03)
    Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested ...
  • Proton-Pump Inhibitors and Fragility Fractures in Vulnerable Older Patients 

    Zirk-Sadowski, J; Masoli, JA; Strain, WD; Delgado, J; Henley, W; Hamilton, W; Melzer, D; Ble, A (Springer Nature, 2017-03)
    To the Editor: Proton Pump Inhibitors (PPIs) taken for ≥1 year have been linked to increased fragility fracture (FF) risk, prompting the US FDA to issue a related warning. The oldest old (≥85) and patients with comorbidities ...
  • Content-specificity in verbal recall: a randomized controlled study. 

    Zirk-Sadowski, J; Szucs, D; Holmes, J (Public Library of Science, 2013-11-04)
    In this controlled experiment we examined whether there are content effects in verbal short-term memory and working memory for verbal stimuli. Thirty-seven participants completed forward and backward digit and letter recall ...
  • A Genome-Wide Association Study of IVGTT-Based Measures of First Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants. 

    Wood, AR; Jonsson, A; Jackson, AU; Wang, N; van Leewen, N; Palmer, ND; Kobes, S; Deelen, J; Boquete-Vilarino, L; Paananen, J; Stančáková, A; Boomsma, DI; de Geus, EJ; Eekhoff, EM; Fritsche, A; Kramer, M; Nijpels, G; Simonis-Bik, A; van Haeften, TW; Mahajan, A; Boehnke, M; Bergman, RN; Tuomilehto, J; Collins, FS; Mohlke, KL; Banasik, K; Groves, CJ; McCarthy, MI; Pearson, ER; Natali, A; Mari, A; Buchanan, TA; Taylor, KD; Xiang, AH; Gjesing, AP; Grarup, N; Eiberg, H; Pedersen, O; Chen, Y-D; Laakso, M; Norris, JM; Smith, U; Wagenknecht, LE; Baier, L; Bowden, DW; Hansen, T; Walker, M; Watanabe, RM; 't Hart, LM; Hanson, RL; Frayling, TM (American Diabetes Association, 2017-05-10)
    Understanding the physiological mechanisms by which common variants predispose to type 2 diabetes requires large studies with detailed measures of insulin secretion and sensitivity. Here we performed the largest genome-wide ...
  • Elucidating novel dysfunctional pathways in Alzheimer's disease by integrating loci identified in genetic and epigenetic studies 

    Smith, AR; Mill, J; Smith, RG; Lunnon, K (Elsevier, 2016-05-14)
    © 2016 The Authors.Alzheimer's disease is a complex neurodegenerative disorder. A large number of genome-wide association studies have been performed, which have been supplemented more recently by the first epigenome-wide ...
  • Increased DNA methylation near TREM2 is consistently seen in the superior temporal gyrus in Alzheimer's disease brain. 

    Smith, AR; Smith, RG; Condliffe, D; Hannon, E; Schalkwyk, L; Mill, J; Lunnon, K (Elsevier, 2016-07-16)
    Although mutations within the TREM2 gene have been robustly associated with Alzheimer's disease, it is not known whether alterations in the regulation of this gene are also involved in pathogenesis. Here, we present data ...
  • Regional differences in mitochondrial DNA methylation in human post-mortem brain tissue. 

    Devall, M; Smith, RG; Jeffries, A; Hannon, E; Davies, MN; Schalkwyk, L; Mill, J; Weedon, M; Lunnon, K (BioMed Central, 2017-05-03)
    BACKGROUND: DNA methylation is an important epigenetic mechanism involved in gene regulation, with alterations in DNA methylation in the nuclear genome being linked to numerous complex diseases. Mitochondrial DNA methylation ...
  • Bone marrow stem cells expressing keratinocyte growth factor via an inducible lentivirus protects against bleomycin-induced pulmonary fibrosis. 

    Aguilar, S; Scotton, CJ; McNulty, K; Nye, E; Stamp, G; Laurent, G; Bonnet, D; Janes, SM (Public Library of Science, 2009-11-24)
    Many common diseases of the gas exchange surface of the lung have no specific treatment but cause serious morbidity and mortality. Idiopathic Pulmonary Fibrosis (IPF) is characterized by alveolar epithelial cell injury, ...
  • Progressive severe lung injury by zinc oxide nanoparticles; the role of Zn2+ dissolution inside lysosomes. 

    Cho, W-S; Duffin, R; Howie, SEM; Scotton, CJ; Wallace, WAH; Macnee, W; Bradley, M; Megson, IL; Donaldson, K (BioMed Central, 2011-09-06)
    BACKGROUND: Large production volumes of zinc oxide nanoparticles (ZnONP) might be anticipated to pose risks, of accidental inhalation in occupational and even in consumer settings. Herein, we further investigated the ...
  • Proteinase activated receptor 1 mediated fibrosis in a mouse model of liver injury: a role for bone marrow derived macrophages. 

    Kallis, YN; Scotton, CJ; Mackinnon, AC; Goldin, RD; Wright, NA; Iredale, JP; Chambers, RC; Forbes, SJ (Public Library of Science, 2014-01-27)
    Liver fibrosis results from the co-ordinated actions of myofibroblasts and macrophages, a proportion of which are of bone marrow origin. The functional effect of such bone marrow-derived cells on liver fibrosis is unclear. ...
  • Analysis of CC chemokine and chemokine receptor expression in solid ovarian tumours. 

    Scotton, C; Milliken, D; Wilson, J; Raju, S; Balkwill, F (Cancer Research UK, 2001-09-11)
    To understand the chemokine network in a tissue, both chemokine and chemokine receptor expression should be studied. Human epithelial ovarian tumours express a range of chemokines but little is known about the expression ...
  • Boron-Doped Diamond Dual-Plate Deep-Microtrench Device for Generator-Collector Sulfide Sensing 

    Harvey, HM; Gross, AJ; Brooksby, P; Downard, AJ; Green, SJ; Winlove, CP; Benjamin, N; Winyard, PG; Whiteman, M; Hammond, JL; Estrela, P; Marken, F (Wiley, 2015-07-14)
    A BDD-BDD dual-plate microtrench electrode with 6μm inter-electrode spacing is investigated using generator-collector electrochemistry and shown to give microtrench depth-dependent sulfide detection down to the μM levels. ...
  • Influence of iodide ingestion on nitrate metabolism and blood pressure following short-term dietary nitrate supplementation in healthy normotensive adults 

    Bailey, SJ; Blackwell, JR; Wylie, LJ; Emery, A; Taylor, E; Winyard, PG; Jones, AM (Elsevier for Nitric Oxide Society, 2016-12-23)
    Uptake of inorganic nitrate (NO3(-)) into the salivary circulation is a rate-limiting step for dietary NO3(-) metabolism in mammals. It has been suggested that salivary NO3(-) uptake occurs in competition with inorganic ...
  • Relationship Between Urinary Nitrate Excretion and Blood Pressure in the InChianti Cohort 

    Smallwood, MJ; Ble, A; Melzer, D; Winyard, PG; Benjamin, N; Shore, AC; Gilchrist, M (Oxford University Press (OUP), 2017-04-19)
    BACKGROUND: Inorganic nitrate from the oxidation of endogenously synthesized nitric oxide (NO) or consumed in the diet can be reduced to NO via a complex enterosalivary circulation pathway. The relationship between total ...
  • Influence of inflammation and nitric oxide upon platelet aggregation following deposition of diesel exhaust particles in the airways 

    Smyth, E; Solomon, A; Birrell, MA; Smallwood, MJ; Winyard, PG; Tetley, TD; Emerson, M (Wiley / British Pharmacological Society, 2017-04-24)
    BACKGROUND AND PURPOSE: Exposure to nanoparticulate pollution has been implicated in platelet-driven thrombotic events such as myocardial infarction. Inflammation and impairment of nitric oxide (NO) bioavailability have ...
  • Monocyte activation drives preservation of membrane thiols by promoting release of oxidised membrane moieties via extracellular vesicles 

    Szabó-Taylor, KÉ; Tóth, EÁ; Balogh, AM; Sódar, BW; Kádár, L; Pálóczi, K; Fekete, N; Németh, A; Osteikoetxea, X; Vukman, KV; Holub, M; Pállinger, É; Nagy, G; Winyard, PG; Buzás, EI (Elsevier for Society for Free Radical Biology and Medicine, 2017-03-18)
    The redox state of cellular exofacial molecules is reflected by the amount of available thiols. Furthermore, surface thiols can be considered as indicators of immune cell activation. One group of thiol containing proteins, ...
  • Management of sulfonylurea treated monogenic diabetes in pregnancy: implications of placental Glibenclamide transfer 

    Shepherd, M; Brook, AJ; Chakera, AJ; Hattersley, AT (Wiley for Diabetes UK, 2017)
    HNF1A/HNF4A maturity onset diabetes of the young (MODY) and KATP channel neonatal diabetes (NDM) are optimally treated with sulfonylureas outside pregnancy, but there is little evidence regarding the most appropriate ...
  • Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes 

    Johnson, MB; De Franco, E; Lango-Allen, H; Al Senani, A; Elbarbary, N; Siklar, Z; Berberoglu, M; Imane, Z; Haghighi, A; Ullah, I; Zlyaarubi, S; Gardner, D; Ellard, S; Hattersley, AT; Flanagan, S (American Diabetes Association, 2017)
    Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients’ ...

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