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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

  • Obesity in Older People With and Without Conditions Associated With Weight Loss: Follow-up of 955,000 Primary Care Patients 

    Bowman, K; Delgado, J; Henley, WE; Masoli, JA; Kos, K; Brayne, C; Thokala, P; Lafortune, L; Kuchel, GA; Ble, A; Melzer, D; Ageing Well Programme of the NIHR School for Public Health Research, England (Oxford University Press (OUP) / Gerontological Society of America, 2016-08-04)
    BACKGROUND: Moderate obesity in later life may improve survival, prompting calls to revise obesity control policies. However, this obesity paradox may be due to confounding from smoking, diseases causing weight-loss, plus ...
  • Central adiposity and the overweight risk paradox in aging: follow-up of 130,473 UK Biobank participants 

    Bowman, K; Atkins, JL; Delgado, J; Kos, K; Kuchel, GA; Ble, A; Ferrucci, L; Melzer, D (American Society for Nutrition, 2017-05-31)
    Background: For older groups, being overweight [body mass index (BMI; in kg/m(2)): 25 to <30] is reportedly associated with a lower or similar risk of mortality than being normal weight (BMI: 18.5 to <25). However, this ...
  • Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. 

    Day, FR; Thompson, DJ; Helgason, H; Chasman, DI; Finucane, H; Sulem, P; Ruth, KS; Whalen, S; Sarkar, AK; Albrecht, E; Altmaier, E; Amini, M; Barbieri, CM; Boutin, T; Campbell, A; Demerath, E; Giri, A; He, C; Hottenga, JJ; Karlsson, R; Kolcic, I; Loh, P-R; Lunetta, KL; Mangino, M; Marco, B; McMahon, G; Medland, SE; Nolte, IM; Noordam, R; Nutile, T; Paternoster, L; Perjakova, N; Porcu, E; Rose, LM; Schraut, KE; Segrè, AV; Smith, AV; Stolk, L; Teumer, A; Andrulis, IL; Bandinelli, S; Beckmann, MW; Benitez, J; Bergmann, S; Bochud, M; Boerwinkle, E; Bojesen, SE; Bolla, MK; Brand, JS; Brauch, H; Brenner, H; Broer, L; Brüning, T; Buring, JE; Campbell, H; Catamo, E; Chanock, S; Chenevix-Trench, G; Corre, T; Couch, FJ; Cousminer, DL; Cox, A; Crisponi, L; Czene, K; Davey Smith, G; de Geus, EJCN; de Mutsert, R; De Vivo, I; Dennis, J; Devilee, P; Dos-Santos-Silva, I; Dunning, AM; Eriksson, JG; Fasching, PA; Fernández-Rhodes, L; Ferrucci, L; Flesch-Janys, D; Franke, L; Gabrielson, M; Gandin, I; Giles, GG; Grallert, H; Gudbjartsson, DF; Guénel, P; Hall, P; Hallberg, E; Hamann, U; Harris, TB; Hartman, CA; Heiss, G; Hooning, MJ; Hopper, JL; Hu, F; Hunter, DJ; Ikram, MA; Im, HK; Järvelin, M-R; Joshi, PK; Karasik, D; Kellis, M; Kutalik, Z; LaChance, G; Lambrechts, D; Langenberg, C; Launer, LJ; Laven, JSE; Lenarduzzi, S; Li, J; Lind, PA; Lindstrom, S; Liu, Y; Luan, J; Mägi, R; Mannermaa, A; Mbarek, H; McCarthy, MI; Meisinger, C; Meitinger, T; Menni, C; Metspalu, A; Michailidou, K; Milani, L; Milne, RL; Montgomery, GW; Mulligan, AM; Nalls, MA; Navarro, P; Nevanlinna, H; Nyholt, DR; Oldehinkel, AJ; O'Mara, TA; Padmanabhan, S; Palotie, A; Pedersen, N; Peters, A; Peto, J; Pharoah, PDP; Pouta, A; Radice, P; Rahman, I; Ring, SM; Robino, A; Rosendaal, FR; Rudan, I; Rueedi, R; Ruggiero, D; Sala, CF; Schmidt, MK; Scott, RA; Shah, M; Sorice, R; Southey, MC; Sovio, U; Stampfer, M; Steri, M; Strauch, K; Tanaka, T; Tikkanen, E; Timpson, NJ; Traglia, M; Truong, T; Tyrer, JP; Uitterlinden, AG; Edwards, DRV; Vitart, V; Völker, U; Vollenweider, P; Wang, Q; Widen, E; van Dijk, KW; Willemsen, G; Winqvist, R; Wolffenbuttel, BHR; Zhao, JH; Zoledziewska, M; Zygmunt, M; Alizadeh, BZ; Boomsma, DI; Ciullo, M; Cucca, F; Esko, T; Franceschini, N; Gieger, C; Gudnason, V; Hayward, C; Kraft, P; Lawlor, DA; Magnusson, PKE; Martin, NG; Mook-Kanamori, DO; Nohr, EA; Polasek, O; Porteous, D; Price, AL; Ridker, PM; Snieder, H; Spector, TD; Stöckl, D; Toniolo, D; Ulivi, S; Visser, JA; Völzke, H; Wareham, NJ; Wilson, JF; LifeLines Cohort Study; InterAct Consortium; kConFab/AOCS Investigators; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; PRACTICAL consortium; Spurdle, AB; Thorsteindottir, U; Pollard, KS; Easton, DF; Tung, JY; Chang-Claude, J; Hinds, D; Murray, A; Murabito, JM; Stefansson, K; Ong, KK; Perry, JRB (2017-04-24)
    The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 ...
  • European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS) 

    Egea, J; Fabregat, I; Frapart, YM; Ghezzi, P; Görlach, A; Kietzmann, T; Kubaichuk, K; Knaus, UG; Lopez, MG; Olaso-Gonzalez, G; Petry, A; Schulz, R; Vina, J; Winyard, P; Abbas, K; Ademowo, OS; Afonso, CB; Andreadou, I; Antelmann, H; Antunes, F; Aslan, M; Bachschmid, MM; Barbosa, RM; Belousov, V; Berndt, C; Bernlohr, D; Bertrán, E; Bindoli, A; Bottari, SP; Brito, PM; Carrara, G; Casas, AI; Chatzi, A; Chondrogianni, N; Conrad, M; Cooke, MS; Costa, JG; Cuadrado, A; My-Chan Dang, P; De Smet, B; Debelec-Butuner, B; Dias, IHK; Dunn, JD; Edson, AJ; El Assar, M; El-Benna, J; Ferdinandy, P; Fernandes, AS; Fladmark, KE; Förstermann, U; Giniatullin, R; Giricz, Z; Görbe, A; Griffiths, H; Hampl, V; Hanf, A; Herget, J; Hernansanz-Agustín, P; Hillion, M; Huang, J; Ilikay, S; Jansen-Dürr, P; Jaquet, V; Joles, JA; Kalyanaraman, B; Kaminskyy, D; Karbaschi, M; Kleanthous, M; Klotz, L-O; Korac, B; Korkmaz, KS; Koziel, R; Kračun, D; Krause, K-H; Křen, V; Krieg, T; Laranjinha, J; Lazou, A; Li, H; Martínez-Ruiz, A; Matsui, R; McBean, GJ; Meredith, SP; Messens, J; Miguel, V; Mikhed, Y; Milisav, I; Milković, L; Miranda-Vizuete, A; Mojović, M; Monsalve, M; Mouthuy, P-A; Mulvey, J; Münzel, T; Muzykantov, V; Nguyen, ITN; Oelze, M; Oliveira, NG; Palmeira, CM; Papaevgeniou, N; Pavićević, A; Pedre, B; Peyrot, F; Phylactides, M; Pircalabioru, GG; Pitt, AR; Poulsen, HE; Prieto, I; Rigobello, MP; Robledinos-Antón, N; Rodríguez-Mañas, L; Rolo, AP; Rousset, F; Ruskovska, T; Saraiva, N; Sasson, S; Schröder, K; Semen, K; Seredenina, T; Shakirzyanova, A; Smith, GL; Soldati, T; Sousa, BC; Spickett, CM; Stancic, A; Stasia, MJ; Steinbrenner, H; Stepanić, V; Steven, S; Tokatlidis, K; Tuncay, E; Turan, B; Ursini, F; Vacek, J; Vajnerova, O; Valentová, K; Van Breusegem, F; Varisli, L; Veal, EA; Yalçın, AS; Yelisyeyeva, O; Žarković, N; Zatloukalová, M; Zielonka, J; Touyz, RM; Papapetropoulos, A; Grune, T; Lamas, S; Schmidt, HHHW; Di Lisa, F; Daiber, A (Elsevier, 2017-05-18)
    The European Cooperation in Science and Technology (COST) provides an ideal framework to establish multi-disciplinary research networks. COST Action BM1203 (EU-ROS) represents a consortium of researchers from different ...
  • Splicing regulatory factors, ageing and age-related disease. 

    Latorre, E; Harries, LW (Elsevier Masson, 2017-04-26)
    Alternative splicing is a co-transcriptional process, which allows for the production of multiple transcripts from a single gene and is emerging as an important control point for gene expression. Alternatively expressed ...
  • Gene-obesogenic environment interactions in the UK Biobank study 

    Tyrrell, J; Yaghootkar, H; Beaumont, R; Jones, SE; Ames, RM; Tuke, MA; Ruth, KS; Kutalik, Z; Freathy, RM; Murray, A; Wood, AR; Weedon, MN; Frayling, TM (Springer Verlag (Germany), 2016-08)
    Abstract of paper presented at: Conference: 52nd Annual Meeting of the European-Association-for-the-Study-of-Diabetes (EASD). Location: Munich, GERMANY. Date: SEP 12-16, 2016. Sponsor(s):European Association for the Study ...
  • MicroRNAs miR-203-3p, miR-664-3p and miR-708-5p are associated with median strain lifespan in mice 

    Lee, BP; Burić, I; George-Pandeth, A; Flurkey, K; Harrison, DE; Yuan, R; Peters, LL; Kuchel, GA; Melzer, D; Harries, LW (Springer Nature, 2017-03-17)
    MicroRNAs (miRNAs) are small non-coding RNA species that have been shown to have roles in multiple processes that occur in higher eukaryotes. They act by binding to specific sequences in the 3' untranslated region of their ...
  • Precision diabetes: learning from monogenic diabetes 

    Hattersley, AT; Patel, KA (Springer Verlag, 2017-03-17)
    The precision medicine approach of tailoring treatment to the individual characteristics of each patient or subgroup has been a great success in monogenic diabetes subtypes, MODY and neonatal diabetes. This review examines ...
  • PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 

    Zollo, M; Ahmed, M; Ferrucci, V; Salpietro, V; Asadzadeh, F; Carotenuto, M; Maroofian, R; Al-Amri, A; Singh, R; Scognamiglio, I; Mojarrad, M; Musella, L; Duilio, A; Di Somma, A; Karaca, E; Rajab, A; Al-Khayat, A; Mohan Mohapatra, T; Eslahi, A; Ashrafzadeh, F; Rawlins, LE; Prasad, R; Gupta, R; Kumari, P; Srivastava, M; Cozzolino, F; Kumar Rai, S; Monti, M; Harlalka, GV; Simpson, MA; Rich, P; Al-Salmi, F; Patton, MA; Chioza, BA; Efthymiou, S; Granata, F; Di Rosa, G; Wiethoff, S; Borgione, E; Scuderi, C; Mankad, K; Hanna, MG; Pucci, P; Houlden, H; Lupski, JR; Crosby, AH; Baple, EL (Oxford University Press (OUP) for Guarantors of Brain, 2017-02-28)
    PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran ...
  • Intestinal Serotonin Transporter Inhibition by Toll-Like Receptor 2 Activation. A Feedback Modulation 

    Latorre, E; Layunta, E; Grasa, L; Castro, M; Pardo, J; Gomollón, F; Alcalde, AI; Mesonero, JE (Public Library of Science, 2016-12-29)
    TLR2 is a microbiota recognition receptor that has been described to contribute to intestinal homeostasis and to ameliorate inflammatory intestinal injury. In this context, serotonin (5-HT) has shown to be an essential ...
  • Genetic architecture of epigenetic and neuronal ageing rates in human brain regions 

    Lu, AT; Hannon, E; Levine, ME; Crimmins, EM; Lunnon, K; Mill, J; Geschwind, DH; Horvath, S (Springer Nature, 2017-05-18)
    Identifying genes regulating the pace of epigenetic ageing represents a new frontier in genome-wide association studies (GWASs). Here using 1,796 brain samples from 1,163 individuals, we carry out a GWAS of two DNA ...
  • Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci 

    Hannon, E; Weedon, M; Bray, N; O'Donovan, M; Mill, J (Elsevier, 2017-05-18)
    Most genetic variants identified in genome-wide association studies (GWASs) of complex traits are thought to act by affecting gene regulation rather than directly altering the protein product. As a consequence, the actual ...
  • 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 ...

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