Now showing items 1-20 of 122

  • 5-hydroxymethylcytosine profiling as an indicator of cellular state 

    Laird, Alexander; Thomson, John P.; Harrison, David J.; Meehan, Richard R. (2013-12) - Journal article
    DNA methylation is widely studied in the context of cancer. However, the rediscovery of 5-hydroxymethylation of DNA adds a new layer of complexity to understanding the epigenetic basis of development and disease, including ...
  • Activation of a synapse weakening pathway by human Val66 but not Met66 pro-brain-derived neurotrophic factor (proBDNF) 

    Kailainathan, Sumangali; Piers, Thomas M.; Yi, Jee Hyun; Choi, Seongmin; Fahey, Mark S.; Borger, Eva; Gunn-Moore, Francis James; O'Neill, Laurie; Lever, Michael; Whitcomb, Daniel J.; Cho, Kwangwook; Allen, Shelley J. (2016-02) - Journal article
    This study describes a fundamental functional difference between the two main polymorphisms of the pro-form of brain-derived neurotrophic factor (proBDNF), providing an explanation as to why these forms have such different ...
  • "Adaptive response" - some underlying mechanisms and open questions 

    Dimova, Evgeniya G; Bryant, Peter Edward; Chankova, Stephka G (2008) - Journal article
    Organisms are affected by different DNA damaging agents naturally present in the environment or released as a result of human activity. Many defense mechanisms have evolved in organisms to minimize genotoxic damage. One ...
  • Annelid Distal-less/Dlx duplications reveal varied post-duplication fates 

    McDougall, Carmel; Korchagina, Natalia; Tobin, Johnathan; Ferrier, David Ellard Keith (2011-08-16) - Journal article
    Background: Dlx (Distal-less) genes have various developmental roles and are widespread throughout the animal kingdom, usually occurring as single copy genes in non-chordates and as multiple copies in most chordate genomes. ...
  • Another biomineralising protostome with an msp130 gene and conservation of msp130 gene structure across Bilateria 

    Szabo, Réka; Ferrier, David Ellard Keith (2015-05) - Journal article
    Msp130 genes are known for their association with biomineralisation, principally in echinoderm skeletogenesis. Recently, msp130 genes were shown to exist more widely across the animal kingdom, including in molluscs, and a ...
  • Anti-Müllerian hormone serum concentrations of women with germline BRCA1 or BRCA2 mutations 

    Phillips, K-A; Collins, I M; Milne, R L; McLachlan, S A; Friedlander, M; Hickey, M; Stern, C; Hopper, J L; Fisher, R; Kannemeyer, G; Picken, S; Smith, C D; Kelsey, Thomas William; Anderson, R A (2016-05) - Journal article
    Study question: Do women with BRCA1 and BRCA2 mutations have reduced ovarian reserve, as measured by circulating anti-müllerian hormone (AMH) concentration?  Summary answer: Women with a germline mutation in BRCA1 have ...
  • APE-type non-LTR retrotransposons of multicellular organisms encode virus-like 2A oligopeptide sequences, which mediate translational recoding during protein synthesis 

    Odon, Valerie Marie Nathalie; Luke, Garry Alec; Roulston, Claire; De Felipe, Pablo; Ruan, Lin; Escuin, Helena; Brown, Jeremy; Ryan, Martin Denis; Sukhodub, Andriy (2013-08) - Journal article
    2A oligopeptide sequences (“2As”) mediate a cotranslational recoding event termed “ribosome skipping.” Previously we demonstrated the activity of 2As (and “2A-like sequences”) within a wide range of animal RNA virus genomes ...
  • Assessing recent selection and functionality at long noncoding RNA loci in the mouse genome 

    Wiberg, Ralf Axel Wilhelm; Halligan, Daniel L.; Ness, Rob W.; Necsulea, Anamaria; Kaessmann, Henrik; Keightley, Peter D. (2015-08) - Journal article
    Long noncoding RNAs (lncRNAs) are one of the most intensively studied groups of noncoding elements. Debate continues over what proportion of lncRNAs are functional or merely represent transcriptional noise. Although ...
  • Association between common variation at the FTO locus and changes in Body Mass Index from infancy to late childhood : the complex nature of genetic association through growth and development 

    Sovio, Ulla; Mook-Kanamori, Dennis O.; Warrington, Nicole M.; Lawrence, Robert; Briollais, Laurent; Palmer, Colin N.A.; Cecil, Joanne Elizabeth; Sandling, Johanna; Syvänen, Ann-Christine; Kaakinen, Marika; Beilin, Lawrie; Millwood, Iona; Bennett, Amanda; Laitinen, Jaana; Pouta, Anneli; Molitor, John; Davey Smith, George; Ben-Shlomo, Yoav; Jaddoe, Vincent; Palmer, Lyle; Pennell, Craig; Cole, Tim; McCarthy, Mark; Järvelin, Marjo-Riitta; Timpson, Nicholas (2011) - Journal article
    An age-dependent association between variation at the FTO locus and BMI in children has been suggested. We metaanalyzed associations between the FTO locus (rs9939609) and BMI in samples, aged from early infancy to 13 years, ...
  • At the transition from invertebrates to vertebrates a novel GnRH-like peptide emerges in amphioxus 

    Roch, Graeme; Tello, Javier; Sherwood, Nancy (2013-12-20) - Journal article
    Gonadotropin-releasing hormone (GnRH) is a critical reproductive regulator in vertebrates. Homologous peptides are also found in invertebrates, with a variety of characterized functions. In the amphioxus, an invertebrate ...
  • Burkholderia pseudomallei genome plasticity associated with genomic island variation 

    Tumapa, Sarinna; Holden, Matthew T. G.; Vesaratchavest, Mongkol; Wuthiekanun, Vanaporn; Limmathurotsakul, Direk; Chierakul, Wirongrong; Feil, Edward J.; Currie, Bart J.; Day, Nicholas P. J.; Nierman, William C.; Peacock, Sharon J. (2008-04-25) - Journal article
    Background: Burkholderia pseudomallei is a soil-dwelling saprophyte and the cause of melioidosis. Horizontal gene transfer contributes to the genetic diversity of this pathogen and may be an important determinant of virulence ...
  • Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles 

    Nandi, Tannistha; Holden, Matthew; Didelot, Xavier; Mehershahi, Kurosh; Boddey, Justin A; Beacham, Ifor; Peak, Ian; Harting, John; Baybayan, Primo; Guo, Yan; Wang, Susana; How, Lee Chee; Sim, Bernice; Essex-Lopresti, Angela; Sarkar-Tyson, Mitali; Nelson, Michelle; Smither, Sophie; Ong, Catherine; Aw, Lay Tin; Hoon, Chua Hui; Michell, Stephen; Studholme, David J; Titball, Richard; Chen, Swaine L; Parkhill, Julian; Tan, Patrick (2015-01) - Journal article
    Burkholderia pseudomallei (Bp) is the causative agent of the infectious disease melioidosis. To investigate population diversity, recombination, and horizontal gene transfer in closely related Bp isolates, we performed ...
  • Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist : a Mendelian randomisation analysis 

    Freitag, D.; Butterworth, A.S.; Willeit, P.; Howson, J.M.M.; Burgess, S.; Kaptoge, S.; Young, R.; Ho, W.K.; Wood, A.M.; Sweeting, M.; Spackman, S.; Staley, J.R.; Ramond, A.; Harshfield, E.; Nielsen, S.F.; Grande, P.; Lange, L.A.; Bown, M.J.; Jones, G.T.; Scott, R.A.; Bevan, S.; Porcu, E.; Thorleifsson, G.; Zeng, L.; Kessler, T.; Nikpay, M.; Do, R.; Zhang, W.; Hopewell, J.C.; Kleber, M.; Delgado, G.E.; Nelson, C.P.; Goel, A.; Bis, J.C.; Dehghan, A.; Ligthart, S.; Smith, A.V.; Qu, L.; van 't Hof, F.N.G.; de Bakker, P.I.W.; Baas, A.F.; van Rij, A.; Tromp, G.; Kuivaniemi, H.; Ritchie, M.D.; Verma, S.S.; Crawford, D.C.; Malinowski, J.; de Andrade, M.; Kullo, I.J.; Peissig, P.L.; McCarty, C.A.; Böttinger, E.P.; Gottesman, O.; Crosslin, D.R.; Carrell, D.S.; Rasmussen-Torvik, L.J.; Pacheco, J.A.; Huang, J.; Timpson, N.J.; Kettunen, J.; Ala-Korpela, M.; Mitchell, G.F.; Parsa, A.; Wilkinson, I.B.; Gorski, M.; Li, Y.; Franceschini, N.; Keller, M.F.; Ganesh, S.K.; Langefeld, C.D.; Bruijn, L.; Brown, M.A.; Evans, D.M.; Baltic, S.; Ferreira, M.A.; Baurecht, H.; Weidinger, S.; Franke, A.; Lubitz, S.A.; Müller-Nurasyid, M.; Felix, J.F.; Smith, N.L.; Sudman, M.; Thompson, S.D.; Zeggini, E.; Panoutsopoulou, K.; Nalls, M.A.; Singleton, A.; Polychronakos, C.; Bradfield, J.P.; Hakonarson, H.; Easton, D.F.; Thompson, D.; Tomlinson, I.P.; Dunlop, M.; Hemminki, K.; Morgan, G.; Eisen, T.; Goldschmidt, H.; Allan, J.M.; Henrion, M.; Whiffin, N.; Wang, Y.; Chubb, D.; Iles, M.M.; Bishop, D.T.; Law, M.H.; Hayward, N.K.; Luo, Y.; Nejentsev, S.; Barbalic, M.; Crossman, D.; Sanna, S.; Soranzo, N.; Markus, H.S.; Wareham, N.J.; Rader, D.J.; Reilly, M.; Assimes, T.; Harris, T.B.; Hofman, A.; Franco, O.H.; Gudnason, V.; Tracy, R.; Psaty, B.M.; Farrall, M.; Watkins, H.; Hall, A.S.; Samani, N.J.; März, W.; Clarke, R.; Collins, R.; Kooner, J.S.; Chambers, J.C.; Kathiresan, S.; McPherson, R.; Erdmann, J.; Kastrati, A.; Schunkert, H.; Stefánsson, K.; Thorsteinsdottir, U.; Walston, J.D.; Tybjærg-Hansen, A.; Alam, D.S.; Al Shafi Majumder, A.; Angelantonio, E.D.; Chowdhury, R.; Nordestgaard, B.G.; Saleheen, D.; Thompson, S.G.; Danesh, J.; Houlston, R.S. (2015-04-01) - Journal article
    To investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. ...
  • Changes in selective pressures associated with human population expansion may explain metabolic and immune related pathways enriched for signatures of positive selection 

    Vatsiou, Alexandra; Bazin, Eric; Gaggiotti, Oscar Eduardo (2016-07-21) - Journal article
    Background: The study of local adaptation processes is a very important research topic in the field of population genomics. There is a particular interest in the study of human populations because they underwent a process ...
  • Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds 

    He, Xu; Pierce, Owen; Haselhorst, Thomas; Kolarich, Daniel; Packer, Nicolle H.; Gloster, Tracey; Vocadlo, David J.; Qian, Yi; Brooks, Doug; Kermode, Allison R. (2013-12) - Journal article
    Mucopolysaccharidosis (MPS) I is a lysosomal storage disease caused by a deficiency of α-L-iduronidase (IDUA) (EC 3.2.1.76); enzyme replacement therapy is the conventional treatment for this genetic disease. Arabidopsis ...
  • Characterization of the transcriptome of fast and slow muscle myotomal fibres in the pacu (Piaractus mesopotamicus) 

    Mareco, E.A.; Garcia de la Serrana Castillo, Daniel; Johnston, I.A.; Dal-Pai-Silva, M. (2015-03-14) - Journal article
    Background: The Pacu (Piaractus mesopotamicus) is a member of the Characiform family native to the Prata Basin (South America) and a target for the aquaculture industry. A limitation for the development of a selective ...
  • A common variant associated with dyslexia reduces expression of the KIAA0319 gene 

    Dennis, Megan Y.; Paracchini, Silvia; Scerri, Thomas S.; Prokunina-Olsson, Ludmila; Knight, Julian C.; Wade-Martins, Richard; Coggill, Penny; Beck, Stephan; Green, Eric D.; Monaco, Anthony P. (2009-03) - Journal article
    Numerous genetic association studies have implicated the KIAA0319 gene on human chromosome 6p22 in dyslexia susceptibility. The causative variant(s) remains unknown but may modulate gene expression, given that (1) a ...
  • Common variants in left/right asymmetry genes and pathways are associated with relative hand skill 

    Brandler, William; Morris, Andrew; Evans, David; Scerri, Thomas; Kemp, John; Timpson, Nicholas; St Pourcain, Beate; Davey Smith, George; Ring, Susan; Stein, John; Monaco, Anthony; Talcott, Joel; Fisher, Simon; Webber, Caleb; Paracchini, Silvia (2013-09-12) - Journal article
    Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these asymmetries is unknown. We report a genome-wide association study ...
  • The complete genome sequence and comparative genome analysis of the high pathogenicity Yersinia enterocolitica strain 8081 

    Thomson, Nicholas R.; Howard, Sarah; Wren, Brendan W.; Holden, Matthew T. G.; Crossman, Lisa; Challis, Gregory L.; Churcher, Carol; Mungall, Karen; Brooks, Karen; Chillingworth, Tracey; Feltwell, Theresa; Abdellah, Zahra; Hauser, Heidi; Jagels, Kay; Maddison, Mark; Moule, Sharon; Sanders, Mandy; Whitehead, Sally; Quail, Michael A.; Dougan, Gordon; Parkhill, Julian; Prentice, Michael B. (2006-12) - Journal article
    The human enteropathogen, Yersinia enterocolitica, is a significant link in the range of Yersinia pathologies extending from mild gastroenteritis to bubonic plague. Comparison at the genomic level is a key step in our ...
  • Complete genome sequence of MIDG2331, a genetically tractable serovar 8 clinical isolate of Actinobacillus pleuropneumoniae 

    Bossé, Janine T; Chaudhuri, Roy R.; Li, Yanwen; Leanse, Leon G.; Fernandez Crespo, Roberto; Coupland, Paul; Holden, Matthew T G; Bazzolli, Denise M.; Maskell, Duncan J.; Tucker, Alexander W.; Wren, Brendan W.; Rycroft, Andrew N.; Langford, Paul R.; on behalf of the BRaDP1T consortium (2016-01-28) - Journal article
    We report here the complete annotated genome sequence of a clinical serovar 8 isolate Actinobacillus pleuropneumoniae MIDG2331. Unlike the serovar 8 reference strain 405, MIDG2331 is amenable to genetic manipulation via ...