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pro vyhledávání: '"Pointon, Jj"'
OBJECTIVES: ANTXR2 variants have been associated with ankylosing spondylitis (AS) in two previous genome-wide association studies (GWAS) (p∼9×10(-8)). However, a genome-wide significant association (p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09199e0c73a66c7229081870e82cc3dc
https://ora.ox.ac.uk/objects/uuid:dc38f77a-0fc6-4ea2-8d91-9946c8a6b074
https://ora.ox.ac.uk/objects/uuid:dc38f77a-0fc6-4ea2-8d91-9946c8a6b074
Autor:
Burton, PR, Clayton, DG, Cardon, LR, Craddock, N, Deloukas, P, Duncanson, A, Kwiatkowski, DP, McCarthy, MI, Ouwehand, WH, Samani, NJ, Todd, JA, Donnelly, P, Barrett, JC, Davison, D, Easton, D, Evans, DM, Leung, HT, Marchini, JL, Morris, AP, Spencer, CC, Tobin, MD, Attwood, AP, Boorman, JP, Cant, B, Everson, U, Hussey, JM, Jolley, JD, Knight, AS, Koch, K, Meech, E, Nutland, S, Prowse, CV, Stevens, HE, Taylor, NC, Walters, GR, Walker, NM, Watkins, NA, Winzer, T, Jones, RW, McArdle, WL, Ring, SM, Strachan, DP, Pembrey, M, Breen, G, St Clair, D, Caesar, S, Gordon-Smith, K, Jones, L, Fraser, C, Green, EK, Grozeva, D, Hamshere, ML, Holmans, PA, Jones, IR, Kirov, G, Moskivina, V, Nikolov, I, O'Donovan, MC, Owen, MJ, Collier, DA, Elkin, A, Farmer, A, Williamson, R, McGuffin, P, Young, AH, Ferrier, IN, Ball, SG, Balmforth, AJ, Barrett, JH, Bishop, TD, Iles, MM, Maqbool, A, Yuldasheva, N, Hall, AS, Braund, PS, Dixon, RJ, Mangino, M, Stevens, S, Thompson, JR, Bredin, F, Tremelling, M, Parkes, M, Drummond, H, Lees, CW, Nimmo, ER, Satsangi, J, Fisher, SA, Forbes, A, Lewis, CM, Onnie, CM, Prescott, NJ, Sanderson, J, Matthew, CG, Barbour, J, Mohiuddin, MK, Todhunter, CE, Mansfield, JC, Ahmad, T, Cummings, FR, Jewell, DP, Webster, J, Brown, MJ, Lathrop, MG, Connell, J, Dominiczak, A, Marcano, CA, Burke, B, Dobson, R, Gungadoo, J, Lee, KL, Munroe, PB, Newhouse, SJ, Onipinla, A, Wallace, C, Xue, M, Caulfield, M, Farrall, M, Barton, A, Bruce, IN, Donovan, H, Eyre, S, Gilbert, PD, Hilder, SL, Hinks, AM, John, SL, Potter, C, Silman, AJ, Symmons, DP, Thomson, W, Worthington, J, Dunger, DB, Widmer, B, Frayling, TM, Freathy, RM, Lango, H, Perry, JR, Shields, BM, Weedon, MN, Hattersley, AT, Hitman, GA, Walker, M, Elliott, KS, Groves, CJ, Lindgren, CM, Rayner, NW, Timpson, NJ, Zeggini, E, Newport, M, Sirugo, G, Lyons, E, Vannberg, F, Hill, AV, Bradbury, LA, Farrar, C, Pointon, JJ, Wordsworth, P, Brown, MA, Franklyn, JA, Heward, JM, Simmonds, MJ, Gough, SC, Seal, S, Stratton, MR, Rahman, N, Ban, M, Goris, A, Sawcer, SJ, Compston, A, Conway, D, Jallow, M, Rockett, KA, Bumpstead, SJ, Chaney, A, Downes, K, Ghori, MJ, Gwilliam, R, Hunt, SE, Inouye, M, Keniry, A, King, E, McGinnis, R, Potter, S, Ravindrarajah, R, Whittaker, P, Widden, C, Withers, D, Cardin, NJ, Ferreira, T, Pereira-Gale, J, Hallgrimsdo'ttir, IB, Howie, BN, Su, Z, Teo, YY, Vukcevic, D, Bentley, D, Mitchell, SL, Newby, PR, Brand, OJ, Carr-Smith, J, Pearce, SH, Reveille, JD, Zhou, X, Sims, AM, Dowling, A, Taylor, J, Doan, T, Davis, JC, Savage, L, Ward, MM, Learch, TL, Weisman, MH, Brown, M
Publikováno v:
Burton, P R, Clayton, D G, Cardon, L R, Craddock, N, Deloukas, P, Duncanson, A, Kwiatkowski, D P, McCarthy, M I, Ouwehand, W H, Samani, N J, Todd, J A, Donnelly, P, Barrett, J C, Davison, D, Easton, D, Evans, D M, Leung, H-T, Marchini, J L, Morris, A P, Spencer, C C A, Tobin, M D, Attwood, A P, Boorman, J P, Cant, B, Everson, U, Hussey, J M, Jolley, J D, Knight, A S, Koch, K, Meech, E, Nutland, S, Prowse, C V, Stevens, H E, Taylor, N C, Walters, G R, Walker, N M, Watkins, N A, Winzer, T, Jones, R W, McArdle, W L, Ring, S M, Strachan, D P, Pembrey, M, Breen, G, St Clair, D, Caesar, S, Drummond, H, Lees, C W & Nimmo, E R & Satsangi, J 2007, ' Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants ', Nature Genetics, vol. 39, no. 11, pp. 1329-37 . https://doi.org/10.1038/ng.2007.17
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eb0ae488030d93095bbd731921effd4
https://doi.org/10.1038/ng.2007.17
https://doi.org/10.1038/ng.2007.17
Autor:
Pointon, JJ, Chapman, K, Harvey, D, Sims, A-M, Bradbury, L, Laiho, K, Kauppi, M, Kaarela, K, Tuomilehto, J, Brown, MA, Wordsworth, BP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f4cef8735f1aaf372eeb88dba776bcd
https://ora.ox.ac.uk/objects/uuid:40a67cf4-b6ff-4afb-b4ee-48c4f3e5778d
https://ora.ox.ac.uk/objects/uuid:40a67cf4-b6ff-4afb-b4ee-48c4f3e5778d
Autor:
Karaderi, T, Harvey, D, Farrar, C, Appleton, LH, Stone, MA, Sturrock, RD, Brown, MA, Wordsworth, P, Pointon, JJ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a7ac2bbbb71a0cd770961d4a14e1c75
https://ora.ox.ac.uk/objects/uuid:14e97165-ef93-4d10-ad41-8198e18a5ff9
https://ora.ox.ac.uk/objects/uuid:14e97165-ef93-4d10-ad41-8198e18a5ff9
Autor:
Reilly MP, Li M, He J, Ferguson JF, Stylianou IM, Mehta NN, Burnett MS, Devaney JM, Knouff CW, Thompson JR, Horne BD, Stewart AF, Assimes TL, Wild PS, Allayee H, Nitschke PL, Patel RS, Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Martinelli N, Girelli D, Quyyumi AA, Anderson JL, Erdmann J, Hall AS, Schunkert H, Quertermous T, Blankenberg S, Hazen SL, Roberts R, Kathiresan S, Samani NJ, Epstein SE, Rader DJ, Qasim AN, DerOhannessian SL, Qu L, Cappola TP, Chen Z, Matthai W, Hakonarson HH, Wilensky R, Kent KM, Lindsay JM, Pichard AD, Satler L, Waksman R, Knoupf CW, Walker MC, Waterworth DM, Mosser V, Braund PS, Wright B, Balmforth AJ, Ball SG, Chen L, Wells GA, McPherson R, Lackner K, Munzel TF, Schillert A, Schnabel R, Zeller T, Ziegler A, Absher D, Hlatky MA, Iribaren C, Knowles JW, Linsel Nitschke P, König IR, Hengstenberg C, Nahrstaedt J, Peters A, Schreiber S, Wichmann E, Willenborg C, Su S, Bouzyk M, Vaccarino V, Zafari AM, Carlquist JF, Muhlestein JB, Olivieri O, Barnard J, Hartiala J, Tang WH, Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskvina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Barrett JH, Bishop DT, Iles MM, Maqbool A, Yuldasheva N, Dixon RJ, Mangino M, Stevens S, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Mathew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop M, Connell J, Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hider SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S, Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Ferreira T, Pereira Gale J, Hallgrimsdóttir IB, Bowie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Meigs JB, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, CASARI , GIORGIO NEVIO
BACKGROUND: We tested whether genetic factors distinctly contribute to either development of coronary atherosclerosis or, specifically, to myocardial infarction in existing coronary atherosclerosis. METHODS: We did two genome-wide association studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ce2b0c437bbc1bd43bd9fc77d063fa
http://hdl.handle.net/11562/1028982
http://hdl.handle.net/11562/1028982
Autor:
Evans, Dm, Spencer, Cc, Pointon, Jj, Su, Z, Harvey, D, Kochan, G, Oppermann, U, Dilthey, A, Pirinen, M, Stone, Ma, Appleton, L, Moutsianas, L, Leslie, S, Wordsworth, T, Kenna, Tj, Karaderi, T, Thomas, Gp, Ward, Mm, Weisman, Mh, Farrar, C, Bradbury, La, Danoy, P, Inman, Rd, Maksymowych, W, Gladman, D, Rahman, P, Spondyloarthritis Research Consortium of Canada, Morgan, A, Marzo Ortega, H, Bowness, P, Gaffney, K, Gaston, Js, Smith, M, Bruges Armas, J, Couto, Ar, Sorrentino, Rosa, Paladini, Fabiana, Ferreira, Ma, Xu, H, Liu, Y, Jiang, L, Lopez Larrea, C, Díaz Peña, R, López Vázquez, A, Zayats, T, Band, G, Bellenguez, C, Blackburn, H, Blackwell, Jm, Bramon, E, Bumpstead, Sj, Casas, Jp, Corvin, A, Craddock, N, Deloukas, P, Dronov, S, Duncanson, A, Edkins, S, Freeman, C, Gillman, M, Gray, E, Gwilliam, R, Hammond, N, Hunt, Se, Jankowski, J, Jayakumar, A, Langford, C, Liddle, J, Markus, Hs, Mathew, Cg, Mccann, Ot, Mccarthy, Mi, Palmer, Cn, Peltonen, L, Plomin, R, Potter, Sc, Rautanen, A, Ravindrarajah, R, Ricketts, M, Samani, N, Sawcer, Sj, Strange, A, Trembath, Rc, Viswanathan, Ac, Waller, M, Weston, P, Whittaker, P, Widaa, S, Wood, Nw, Mcvean, G, Reveille, Jd, Wordsworth, Bp, Brown, Ma, Donnelly, P, Australo Anglo American Spondyloarthritis Consortium, Wellcome Trust Case Control Consortium, 2
Publikováno v:
Nature genetics. 43(8)
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, L