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394 research outcomes, page 1 of 40
  • publication . Article . Other literature type . 2018
    Open Access
    Authors:
    Grainne Gorman; Henna Riikka Susanna Tyynismaa; Anu Suomalainen-Wartiovaara; Liliya Euro; Taru Hilander; Robert McFarland;
    Publisher: Oxford University Press (OUP)
    Project: RCUK | The MRC Centre for Transl... (G0800674), WT | Wellcome Centre for Mitoc... (203105)

    Recessively inherited variants in AARS2 (NM_020745.2) encoding mitochondrial alanyl-tRNA synthetase (mt-AlaRS) were first described in patients presenting with fatal infantile cardiomyopathy and multiple oxidative phosphorylation defects. To date, all described patients...

  • publication . Article . 2009
    Open Access
    Authors:
    Li Chan; Tt, Chung; Af, Massoud; La, Metherell; Aj, Clark;
    Project: WT | Discovery and characteris... (076430), RCUK | MRAP2 (Melanocortin Recep... (G0600408), RCUK | Functional analysis of na... (G0700581)

    Context Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease, characterised by isolated glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Inactivating mutations in the ACTH receptor (melanocortin-2-receptor, MC2R) are we...

  • publication . Article . Other literature type . 2019
    Open Access English
    Authors:
    Gregson, John; Kaptoge, Stephen; Bolton, Thomas; Pennells, Lisa; Willeit, Peter; Burgess, Stephen; Bell, Steven; Sweeting, Michael; Rimm, Eric B; Kabrhel, Christopher; ...
    Project: EC | EPIC-CVD (279233), RCUK | Study of the interplay of... (G0800270), EC | EPICHEART (268834)

    Key Points Question To what extent are established cardiovascular risk factors associated with risk of venous thromboembolism (VTE)? Findings In this analysis of individual participant data from the Emerging Risk Factors Collaboration and the UK Biobank including 1.1 mi...

  • publication . Article . Other literature type . 2011
    Open Access English
    Authors:
    Åsa Johansson; Ozren Polasek; Nicole Soranzo; Alicja Rudnicka; Ian Sayers; Taina Rantanen; Adaikalavan Ramasamy; Martin Tobin; Lina Zgaga; Caroline Hayward; ...
    Publisher: Public Library of Science
    Project: AKA | GENETIC REGULATION OF THE... (120315), NIH | Type 1 Diabetes Genetics ... (1U01DK062418-01), RCUK | Assessment of biomedical ... (G0000934), WT | The genetics of weight, B... (076113), NIH | Whole Genome Assoc. Analy... (1RL1MH083268-01), AKA | Well-being and health: Re... (104781), NIH | Genetics of cardiovascula... (5R01HL087679-02), WT | A national DNA control se... (068545), EC | ENGAGE (201413), EC | GEFOS (201865),...

    RATIONALE: Lung function measures are heritable traits that predict population morbidity and mortality and are essential for the diagnosis of chronic obstructive pulmonary disease (COPD). Variations in many genes have been reported to affect these traits, but attempts a...

  • publication . Article . 2017
    Open Access
    Authors:
    Peter Golyshin; Narcis Fernandez-Fuentes; Olga Golyshina; Christopher J. Creevey; Kai Hilpert; Matthias Hess; Hilario Mantovani; Sharon Huws;
    Publisher: eScholarship, University of California
    Project: RCUK | Characterisation and expl... (BB/L026716/1)

    Antimicrobial peptides (AMPs) are gaining popularity as alternatives for treatment of bacterial infections and recent advances in omics technologies provide new platforms for AMP discovery. We sought to determine the antibacterial activity of a novel antimicrobial pepti...

  • publication . Article . 2017
    Open Access English
    Authors:
    Kerruth, S; Coates, C; Torok, K;
    Publisher: Biophysical Society
    Project: RCUK | FastTrack GECI: Developme... (BB/M02556X/1)
  • publication . Article . 2017
    Open Access English
    Authors:
    Johanna Rhodes; Christopher A. Desjardins; Sean M. Sykes; Mathew A. Beale; Mathieu Vanhove; Sharadha Sakthikumar; Yuan Chen; Sharvari Gujja; Sakina Saif; Anuradha Chowdhary; ...
    Project: NIH | IMMUNOSUPPRESSANT TARGETS... (1R01AI039115-01A2), NIH | Large Scale Sequencing an... (3U54HG003067-07S1), NIH | Functions of Cryptococcus... (5R01AI050113-04), RCUK | An evolutionary populatio... (MR/K000373/1), NIH | Genomic Center for Infect... (5U19AI110818-02), WT | Statistical methodology f... (104125)

    Made available in DSpace on 2019-08-19T11:48:42Z (GMT). No. of bitstreams: 0 Previous issue date: 2017. Added 1 bitstream(s) on 2019-09-03T14:06:54Z : No. of bitstreams: 1 WOS000409179800025.pdf: 2071945 bytes, checksum: 2599739f6fb71544d70721e81c784940 (MD5) National I...

  • publication . Article . Other literature type . 2011
    Open Access English
    Authors:
    Freathy, R.M.; Kazeem, G.B.; Morris, R.W.; Johnson, P.C.D.; Paternoster, L.; Ebrahim, S.; Hattersley, A.T.; Hill, A.; Hingorani, A.D.; Holst, C.; ...
    Project: SNSF | Von der Medienregulierung... (100017-118030), SNSF | Psychiatric disorders in ... (32003B-105993), RCUK | Centre for molecular-base... (G0600705), WT | The role of maternal and ... (085541), SNSF | Cardiovascular diseases a... (33CSC0-122661), WT | Genome-wide association s... (084762)

    BACKGROUND: Cigarette smoking is associated with lower body mass index (BMI), and a commonly cited reason for unwillingness to quit smoking is a concern about weight gain. Common variation in the CHRNA5-CHRNA3-CHRNB4 gene region (chromosome 15q25) is robustly associated...

  • publication . Article . Other literature type . 2017
    Open Access English
    Authors:
    Despoina Manousaki; Lavinia Paternoster; Marie Standl; Miriam F. Moffatt; Martin Farrall; Emmanuelle Bouzigon; David P. Strachan; Florence Demenais; Mark Lathrop; William O. C. M. Cookson; ...
    Project: RCUK | Using Genetics to Identif... (MC_UU_12013/4), RCUK | The Genetic Epidemiology ... (MR/J012165/1), WT | Understanding the genetic... (090532), WT | A second-generation genom... (084703), WT , CIHR

    In a Mendelian randomization analysis, J. Brent Richards and colleagues investigate possible relations between genetic elements associated with vitamin D levels and atopic susceptibility.

  • publication . Article . Other literature type . 2017
    Open Access English
    Authors:
    Becca Asquith; Derek Macallan; Stephan Schaller;
    Publisher: Frontiers Media S.A.
    Project: RCUK | How do lymphocyte prolife... (G1001052), WT | Inhibitory KIRs and virus... (103865), WT , EC | QUANTI (317040)

    In vivo [6,6-2H2]-glucose labelling is a state of the art technique for quantifying cell proliferation and cell disappearance in humans. However, there are discrepancies between estimates of T cell proliferation reported in short (one-day) versus long (seven-day) 2H2-gl...

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