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  1. Article ; Online: Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

    Burton, Paul R / Clayton, David G / Cardon, Lon R / Craddock, Nick / Deloukas, Panos / Duncanson, Audrey / Kwiatkowski, Dominic P / McCarthy, Mark I / Ouwehand, Willem H / Samani, Nilesh J / Todd, John A / Donnelly, Peter / Barrett, Jeffrey C / Davison, Dan / Easton, Doug / Evans, David M / Leung, Hin-Tak / Marchini, Jonathan L / Morris, Andrew P /
    Spencer, Chris C A / Tobin, Martin D / Attwood, Antony P / Boorman, James P / Cant, Barbara / Everson, Ursula / Hussey, Judith M / Jolley, Jennifer D / Knight, Alexandra S / Koch, Kerstin / Meech, Elizabeth / Nutland, Sarah / Prowse, Christopher V / Stevens, Helen E / Taylor, Niall C / Walters, Graham R / Walker, Neil M / Watkins, Nicholas A / Winzer, Thilo / Jones, Richard W / McArdle, Wendy L / Ring, Susan M / Strachan, David P / Pembrey, Marcus / Breen, Gerome / St Clair, David / Caesar, Sian / Gordon-Smith, Katharine / Jones, Lisa / Fraser, Christine / Green, Elaine K / Grozeva, Detelina / Hamshere, Marian L / Holmans, Peter A / Jones, Ian R / Kirov, George / Moskivina, Valentina / Nikolov, Ivan / O'Donovan, Michael C / Owen, Michael J / Collier, David A / Elkin, Amanda / Farmer, Anne / Williamson, Richard / McGuffin, Peter / Young, Allan H / Ferrier, I Nicol / Ball, Stephen G / Balmforth, Anthony J / Barrett, Jennifer H / Bishop, Timothy D / Iles, Mark M / Maqbool, Azhar / Yuldasheva, Nadira / Hall, Alistair S / Braund, Peter S / Dixon, Richard J / Mangino, Massimo / Stevens, Suzanne / Thompson, John R / Bredin, Francesca / Tremelling, Mark / Parkes, Miles / Drummond, Hazel / Lees, Charles W / Nimmo, Elaine R / Satsangi, Jack / Fisher, Sheila A / Forbes, Alastair / Lewis, Cathryn M / Onnie, Clive M / Prescott, Natalie J / Sanderson, Jeremy / Matthew, Christopher G / Barbour, Jamie / Mohiuddin, M Khalid / Todhunter, Catherine E / Mansfield, John C / Ahmad, Tariq / Cummings, Fraser R / Jewell, Derek P / Webster, John / Brown, Morris J / Lathrop, Mark G / Connell, John / Dominiczak, Anna / Marcano, Carolina A Braga / Burke, Beverley / Dobson, Richard / Gungadoo, Johannie / Lee, Kate L / Munroe, Patricia B / Newhouse, Stephen J / Onipinla, Abiodun / Wallace, Chris / Xue, Mingzhan / Caulfield, Mark / Farrall, Martin / Barton, Anne / Bruce, Ian N / Donovan, Hannah / Eyre, Steve / Gilbert, Paul D / Hilder, Samantha L / Hinks, Anne M / John, Sally L / Potter, Catherine / Silman, Alan J / Symmons, Deborah P M / Thomson, Wendy / Worthington, Jane / Dunger, David B / Widmer, Barry / Frayling, Timothy M / Freathy, Rachel M / Lango, Hana / Perry, John R B / Shields, Beverley M / Weedon, Michael N / Hattersley, Andrew T / Hitman, Graham A / Walker, Mark / Elliott, Kate S / Groves, Christopher J / Lindgren, Cecilia M / Rayner, Nigel W / Timpson, Nicolas J / Zeggini, Eleftheria / Newport, Melanie / Sirugo, Giorgio / Lyons, Emily / Vannberg, Fredrik / Hill, Adrian V S / Bradbury, Linda A / Farrar, Claire / Pointon, Jennifer J / Wordsworth, Paul / Brown, Matthew A / Franklyn, Jayne A / Heward, Joanne M / Simmonds, Matthew J / Gough, Stephen C L / Seal, Sheila / Stratton, Michael R / Rahman, Nazneen / Ban, Maria / Goris, An / Sawcer, Stephen J / Compston, Alastair / Conway, David / Jallow, Muminatou / Rockett, Kirk A / Bumpstead, Suzannah J / Chaney, Amy / Downes, Kate / Ghori, Mohammed J R / Gwilliam, Rhian / Hunt, Sarah E / Inouye, Michael / Keniry, Andrew / King, Emma / McGinnis, Ralph / Potter, Simon / Ravindrarajah, Rathi / Whittaker, Pamela / Widden, Claire / Withers, David / Cardin, Niall J / Ferreira, Teresa / Pereira-Gale, Joanne / Hallgrimsdo'ttir, Ingeleif B / Howie, Bryan N / Su, Zhan / Teo, Yik Ying / Vukcevic, Damjan / Bentley, David / Mitchell, Sarah L / Newby, Paul R / Brand, Oliver J / Carr-Smith, Jackie / Pearce, Simon H S / McGinnis, R / Keniry, A / Deloukas, P / Reveille, John D / Zhou, Xiaodong / Sims, Anne-Marie / Dowling, Alison / Taylor, Jacqueline / Doan, Tracy / Davis, John C / Savage, Laurie / Ward, Michael M / Learch, Thomas L / Weisman, Michael H / Brown, Mathew

    Nature genetics

    2007  Volume 39, Issue 11, Page(s) 1329–1337

    Abstract: 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). ... ...

    Abstract 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). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.
    MeSH term(s) Aminopeptidases/genetics ; Autoimmunity/genetics ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Case-Control Studies ; Chromosome Mapping ; Genetics, Population ; Genotype ; Haplotypes/genetics ; Humans ; Linkage Disequilibrium ; Minor Histocompatibility Antigens ; Multiple Sclerosis/epidemiology ; Multiple Sclerosis/genetics ; North America/epidemiology ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide/genetics ; Receptors, Immunologic/genetics ; Receptors, Interleukin/genetics ; Spondylitis, Ankylosing/epidemiology ; Spondylitis, Ankylosing/genetics ; Thyroiditis, Autoimmune/epidemiology ; Thyroiditis, Autoimmune/genetics
    Chemical Substances FCRL3 protein, human ; IL23R protein, human ; Minor Histocompatibility Antigens ; Receptors, Immunologic ; Receptors, Interleukin ; Aminopeptidases (EC 3.4.11.-) ; ERAP1 protein, human (EC 3.4.11.-)
    Language English
    Publishing date 2007-10-21
    Publishing country United States
    Document type Journal Article ; Randomized Controlled Trial
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.2007.17
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes

    Zeggini, Eleftheria / Ahmad, Tariq / Ardern-Jones, A / Attwood, Antony P / Ball, Stephen G / Balmforth, Anthony J / Ban, Maria / Barbour, Jamie / Barrett, Jeffrey C / Barrett, Jennifer H / Barton, Anne / Bentley, David / Berg, J / Bishop, D. Timothy / Boorman, James P / Bradbury, Linda A / Bradshaw, N / Brady, A / Braga Marcano, Carolina A /
    Braund, Peter S / Bredin, Francesca / Breen, Gerome / Brewer, C / Brice, G / Brown, Matthew A / Brown, Morris J / Bruce, Ian N / Bullman, B / Bumpstead, Suzannah J / Burke, Beverley / Burton, Paul R / Caesar, Sian / Campbell, J / Cant, Barbara / Cardin, Niall J / Cardon, Lon R / Castle, B / Caulfield, Mark / Cetnarsryj, R / Chaney, Amy / Chapman, C / Chu, C / Clayton, David G / Coates, N / Cole, T / Collier, David A / Compston, Alastair / Compston, Alistair / Connell, John / Conway, David / Craddock, Nick / Cummings, Fraser R / Davidson, R / Davison, Dan / Deloukas, Panos / Dixon, Richard J / Dobson, Richard / Dominiczak, Anna / Donaldson, A / Doney, Alex S.F / Donnelly, Peter / Donovan, Hannah / Dorkins, H / Douglas, F / Downes, Kate / Drummond, Hazel / Duncanson, Audrey / Dunger, David B / Easton, Doug / Eccles, D / Eeles, R / Elkin, Amanda / Ellard, Sian / Elliott, Katherine S / Elmslie, F / Evans, D.G / Evans, David / Everson, Ursula / Eyre, Steve / Farmer, Anne / Farrall, Martin / Farrar, Claire / Ferreira, Teresa / Ferrier, I. Nicol / Fisher, Sheila A / Forbes, Alastair / Franklyn, Jayne A / Fraser, Christine / Frayling, Timothy M / Freathy, Rachel M / Ghori, Mohammed J.R / Gilbert, Paul D / Goff, S / Goodman, S / Gordon-Smith, Katherine / Goris, An / Goudie, D / Gough, Stephen C.L / Gray, J / Green, Elaine K / Greenhalgh, L / Gregory, H / Groves, Christopher J / Grozeva, Detelina / Gungadoo, Johannie / Gwilliam, Rhian / Hall, Alistair S / Hallgrimsdóttir, Ingeleif B / Hamshere, Marian L / Harries, Lorna W / Hattersley, Andrew T / Heward, Joanne M / Hider, Samantha L / Hill, Adrian V.S / Hinks, Anne M / Hitman, Graham A / Hodgson, S.V / Holmans, Peter A / Homfray, T / Houlston, R.S / Howie, Bryan N / Hunt, Sarah E / Hussey, Judith M / Iles, Mark M / Inouye, Michael / Isaacs, John D / Izatt, L / Jackson, L / Jallow, Muminatou / Jeffers, L / Jewell, Derek P / John, Sally L / Johnson-Roffey, V / Jolley, Jennifer D / Jones, Ian R / Jones, Lisa / Jones, Richard W / Kavalier, F / Keniry, Andrew / King, Emma / Kirk, C / Kirov, George / Knight, Alexandra S / Knight, Beatrice / Koch, Kerstin / Kwiatkowski, Dominic P / Lalloo, F / Langman, C / Lango, Hana / Lathrop, G. Mark / Lee, Kate L / Lees, Charles W / Leung, Hin-Tak / Lewis, Cathryn M / Lindgren, Cecilia M / Locke, I / Longmuir, M / Lyons, Emily / Mackay, J / Magee, A / Mangino, Massimo / Mansfield, John C / Mansour, S / Maqbool, Azhar / Marchini, Jonathan L / Mathew, Christopher G / McArdle, Wendy L / McCarthy, Mark I / McGinnis, Ralph / McGuffin, Peter / Meech, Elizabeth / Miedzybrodzka, Z / Miller, J / Mohiuddin, M. Khalid / Morgan, Ann W / Morris, Andrew D / Morris, Andrew P / Morrison, P / Moskvina, Valentina / Munroe, Patricia B / Murday, V / Newhouse, Stephen J / Newport, Melanie / Nikolov, Ivan / Nimmo, Elaine R / Nutland, Sarah / O'Donovan, Michael C / Onipinla, Abiodun / Onnie, Clive M / Ouwehand, Nilesh J / Ouwehand, Willem H / Owen, Katharine R / Owen, Michael J / Parkes, Miles / Paterson, J / Pembrey, Marcus / Pereira-Gale, Joanne / Perry, John R.B / Pichert, G / Pointon, Jennifer J / Porteous, M / Potter, Catherine / Potter, Simon / Prescott, Natalie J / Prowse, Christopher V / Rahman, N / Rahman, Nazneen / Ravindrarajah, Rathi / Rayner, Nigel W / Ring, Susan M / Rockett, Kirk A / Rogers, M / Rowe, S / Saggar, A / Samani, Michael R / Samani, Nilesh J / Sanderson, Jeremy / Satsangi, Jack / Sawcer, Stephen J / Scott, G / Seal, Sheila / Shanley, S / Shields, Beverley / Side, L / Silman, Alan J / Simmonds, Matthew J / Sirugo, Giorgio / Snadden, L / Spencer, Chris C.A / St. Clair, David / Steel, M / Stevens, Helen E / Stevens, Suzanne / Strachan, David P / Stratton, Michael R / Su, Zhan / Symmons, Deborah P.M / Taylor, Niall C / Teo, Yik Ying / Thomas, M / Thomas, S / Thompson, John R / Thomson, Wendy / Timpson, Nicholas J / Tobin, Martin D / Todd, John A / Todhunter, Catherine E / Tremelling, Mark / Vannberg, Fredrik / Vukcevic, Damjan / Walker, Mark / Walker, Neil M / Wallace, Chris / Walters, Graham R / Watkins, Nicholas A / Webster, John / Weedon, Michael N / Whittaker, Pamela / Widden, Claire / Widmer, Barry / Williamson, Richard / Wilson, Gerry D / Winzer, Thilo / Withers, David / Wordsworth, Paul / Worthington, Jane / Xue, Mingzhan / Young, Allan H / Yuldasheva, Nadira

    Science. 2007 June 1, v. 316, no. 5829

    2007  

    Abstract: The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by the Wellcome Trust Case Control Consortium, we set ... ...

    Abstract The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1924 diabetic cases and 2938 population controls generated by the Wellcome Trust Case Control Consortium, we set out to detect replicated diabetes association signals through analysis of 3757 additional cases and 5346 controls and by integration of our findings with equivalent data from other international consortia. We detected diabetes susceptibility loci in and around the genes CDKAL1, CDKN2A/CDKN2B, and IGF2BP2 and confirmed the recently described associations at HHEX/IDE and SLC30A8. Our findings provide insight into the genetic architecture of type 2 diabetes, emphasizing the contribution of multiple variants of modest effect. The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes.
    Keywords etiology ; genes ; genotype ; islets of Langerhans ; loci ; noninsulin-dependent diabetes mellitus ; risk ; United Kingdom
    Language English
    Dates of publication 2007-0601
    Size p. 1336-1341.
    Publishing place American Association for the Advancement of Science
    Document type Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.1142364
    Database NAL-Catalogue (AGRICOLA)

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