Search Results - "Spain, Sarah L."

Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis by Onoufriadis, Alexandros, Simpson, Michael A., Pink, Andrew E., Di Meglio, Paola, Smith, Catherine H., Pullabhatla, Venu, Knight, Jo, Spain, Sarah L., Nestle, Frank O., Burden, A. David, Capon, Francesca, Trembath, Richard C., Barker, Jonathan N.

“…Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous…”
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Transcriptomic effects of rs4845604, an IBD and allergy-associated RORC variant, in stimulated ex vivo CD4+ T cells by Wilson, Paul A, Santos Franco, Sara, He, Liu, Galwey, Nicholas W, Meakin, Jackie, McIntyre, Rebecca, McHugh, Simon M, Nolan, Michael A, Spain, Sarah L, Carlson, Thaddeus, Lobera, Mercedes, Rubio, Justin P, Davis, Bill, McCarthy, Linda C

“…RORγt is an isoform of RORC, preferentially expressed in Th17 cells, that functions as a critical regulator of type 3 immunity. As murine Th17-driven…”
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An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element by Clop, Alex, Bertoni, Anna, Spain, Sarah L, Simpson, Michael A, Pullabhatla, Venu, Tonda, Raul, Hundhausen, Christian, Di Meglio, Paola, De Jong, Pieter, Hayday, Adrian C, Nestle, Frank O, Barker, Jonathan N, Bell, Robert J A, Capon, Francesca, Trembath, Richard C

“…Psoriasis is an immune-mediated skin disorder that is inherited as a complex genetic trait. Although genome-wide association scans (GWAS) have identified 36…”
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Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes by Prescott, Natalie J, Lehne, Benjamin, Stone, Kristina, Lee, James C, Taylor, Kirstin, Knight, Jo, Papouli, Efterpi, Mirza, Muddassar M, Simpson, Michael A, Spain, Sarah L, Lu, Grace, Fraternali, Franca, Bumpstead, Suzannah J, Gray, Emma, Amar, Ariella, Bye, Hannah, Green, Peter, Chung-Faye, Guy, Hayee, Bu'Hussain, Pollok, Richard, Satsangi, Jack, Parkes, Miles, Barrett, Jeffrey C, Mansfield, John C, Sanderson, Jeremy, Lewis, Cathryn M, Weale, Michael E, Schlitt, Thomas, Mathew, Christopher G

“…The contribution of rare coding sequence variants to genetic susceptibility in complex disorders is an important but unresolved question. Most studies thus far…”
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Strategies for fine-mapping complex traits by Spain, Sarah L, Barrett, Jeffrey C

“…Genome-wide association studies (GWAS) have identified thousands of robust and replicable genetic associations for complex disease. However, the identification…”
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Genomic atlas of the human plasma proteome by Sun, Benjamin B., Maranville, Joseph C., Peters, James E., Stacey, David, Staley, James R., Blackshaw, James, Burgess, Stephen, Jiang, Tao, Paige, Ellie, Surendran, Praveen, Oliver-Williams, Clare, Kamat, Mihir A., Prins, Bram P., Wilcox, Sheri K., Zimmerman, Erik S., Chi, An, Bansal, Narinder, Spain, Sarah L., Wood, Angela M., Morrell, Nicholas W., Bradley, John R., Janjic, Nebojsa, Roberts, David J., Ouwehand, Willem H., Todd, John A., Soranzo, Nicole, Suhre, Karsten, Paul, Dirk S., Fox, Caroline S., Plenge, Robert M., Danesh, John, Runz, Heiko, Butterworth, Adam S.

“…Although plasma proteins have important roles in biological processes and are the direct targets of many drugs, the genetic factors that control…”
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Genome-Wide Association Studies Suggest Limited Immune Gene Enrichment in Schizophrenia Compared to 5 Autoimmune Diseases by Pouget, Jennie G, Gonçalves, Vanessa F, Spain, Sarah L, Finucane, Hilary K, Raychaudhuri, Soumya, Kennedy, James L, Knight, Jo

“…There has been intense debate over the immunological basis of schizophrenia, and the potential utility of adjunct immunotherapies. The major histocompatibility…”
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Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci by Tsoi, Lam C., Spain, Sarah L., Ellinghaus, Eva, Stuart, Philip E., Capon, Francesca, Knight, Jo, Tejasvi, Trilokraj, Kang, Hyun M., Allen, Michael H., Lambert, Sylviane, Stoll, Stefan W., Weidinger, Stephan, Gudjonsson, Johann E., Koks, Sulev, Kingo, Külli, Esko, Tonu, Das, Sayantan, Metspalu, Andres, Weichenthal, Michael, Enerback, Charlotta, Krueger, Gerald G., Voorhees, John J., Chandran, Vinod, Rosen, Cheryl F., Rahman, Proton, Gladman, Dafna D., Reis, Andre, Nair, Rajan P., Franke, Andre, Barker, Jonathan N.W.N., Abecasis, Goncalo R., Trembath, Richard C., Elder, James T.

“…Psoriasis is a chronic autoimmune disease with complex genetic architecture. Previous genome-wide association studies (GWAS) and a recent meta-analysis using…”
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Transcriptomic effects of rs4845604, an IBD and allergy-associated RORC variant, in stimulated ex vivo CD4+ T cells by Paul A Wilson, Sara Santos Franco, Liu He, Nicholas W Galwey, Jackie Meakin, Rebecca McIntyre, Simon M McHugh, Michael A Nolan, Sarah L Spain, Thaddeus Carlson, Mercedes Lobera, Justin P Rubio, Bill Davis, Linda C McCarthy

“…RORγt is an isoform of RORC, preferentially expressed in Th17 cells, that functions as a critical regulator of type 3 immunity. As murine Th17-driven…”
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Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis by KNIGHT, Jo, SPAIN, Sarah L, CAPON, Francesca, HAYDAY, Adrian, NESTLE, Frank O, CLOP, Alex, BARKER, Jonathan N, WEALE, Michael E, TREMBATH, Richard C

“…Psoriasis is a common, chronic, inflammatory skin disorder. A number of genetic loci have been shown to confer risk for psoriasis. Collectively, these offer an…”
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Do Genetic Susceptibility Variants Associate with Disease Severity in Early Active Rheumatoid Arthritis? by Scott, Ian C, Rijsdijk, Frühling, Walker, Jemma, Quist, Jelmar, Spain, Sarah L, Tan, Rachael, Steer, Sophia, Okada, Yukinori, Raychaudhuri, Soumya, Cope, Andrew P, Lewis, Cathryn M

“…Genetic variants affect both the development and severity of rheumatoid arthritis (RA). Recent studies have expanded the number of RA susceptibility variants…”
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Colorectal Cancer Risk Is Not Associated with Increased Levels of Homozygosity in a Population from the United Kingdom by SPAIN, Sarah L, CAZIER, Jean-Baptiste, HOULSTON, Richard, CARVAJAL-CARMONA, Luis, TOMLINSON, Ian

“…Genome-wide association studies have identified several common single nucleotide polymorphisms (SNP) associated with an increased risk of colorectal cancer…”
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Investigating the genetic variation underlying episodicity in major depressive disorder: Suggestive evidence for a bipolar contribution by Ferentinos, Panagiotis, Rivera, Margarita, Ising, Marcus, Spain, Sarah L, Cohen-Woods, Sarah, Butler, Amy W, Craddock, Nicholas, Owen, Michael J, Korszun, Ania, Jones, Lisa, Jones, Ian, Gill, Michael, Rice, John P, Maier, Wolfgang, Mors, Ole, Rietschel, Marcella, Lucae, Susanne, Binder, Elisabeth B, Preisig, Martin, Tozzi, Federica, Muglia, Pierandrea, Breen, Gerome, Craig, Ian W, Farmer, Anne E, Müller-Myhsok, Bertram, McGuffin, Peter, Lewis, Cathryn M

“…Abstract Background Highly recurrent major depressive disorder (MDD) has reportedly increased risk of shifting to bipolar disorder; high recurrence frequency…”
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Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13 by Spain, Sarah L., Carvajal-Carmona, Luis G., Howarth, Kimberley M., Jones, Angela M., Su, Zhan, Cazier, Jean-Baptiste, Williams, Jennet, Aaltonen, Lauri A., Pharoah, Paul, Kerr, David J., Cheadle, Jeremy, Li, Li, Casey, Graham, Vodicka, Pavel, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Morreau, Hans, van Wezel, Tom, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Carracedo, Angel, Castells, Antoni, Castellvi-Bel, Sergi, Dunlop, Malcolm, Houlston, Richard S., Tomlinson, Ian P.M.

“…In genome-wide association studies (GWASs) of colorectal cancer, we have identified two genomic regions in which pairs of tagging-single nucleotide…”
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Fine-mapping inflammatory bowel disease loci to single-variant resolution by Huang, Hailiang, Fang, Ming, Jostins, Luke, Umićević Mirkov, Maša, Boucher, Gabrielle, Anderson, Carl A., Andersen, Vibeke, Cleynen, Isabelle, Cortes, Adrian, Crins, François, D’Amato, Mauro, Deffontaine, Valérie, Dmitrieva, Julia, Docampo, Elisa, Elansary, Mahmoud, Farh, Kyle Kai-How, Franke, Andre, Gori, Ann-Stephan, Goyette, Philippe, Halfvarson, Jonas, Haritunians, Talin, Knight, Jo, Lawrance, Ian C., Lees, Charlie W., Louis, Edouard, Mariman, Rob, Meuwissen, Theo, Mni, Myriam, Momozawa, Yukihide, Parkes, Miles, Spain, Sarah L., Théâtre, Emilie, Trynka, Gosia, Satsangi, Jack, van Sommeren, Suzanne, Vermeire, Severine, Xavier, Ramnik J., Weersma, Rinse K., Duerr, Richard H., Mathew, Christopher G., Rioux, John D., McGovern, Dermot P. B., Cho, Judy H., Georges, Michel, Daly, Mark J., Barrett, Jeffrey C.

“…Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect millions of people worldwide. Genome-wide association studies have…”
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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity by Tsoi, Lam C, Spain, Sarah L, Knight, Jo, Ellinghaus, Eva, Stuart, Philip E, Capon, Francesca, Ding, Jun, Li, Yanming, Tejasvi, Trilokraj, Gudjonsson, Johann E, Kang, Hyun M, Allen, Michael H, McManus, Ross, Novelli, Giuseppe, Samuelsson, Lena, Schalkwijk, Joost, Ståhle, Mona, Burden, A David, Smith, Catherine H, Cork, Michael J, Estivill, Xavier, Bowcock, Anne M, Krueger, Gerald G, Weger, Wolfgang, Worthington, Jane, Tazi-Ahnini, Rachid, Nestle, Frank O, Hayday, Adrian, Hoffmann, Per, Winkelmann, Juliane, Wijmenga, Cisca, Langford, Cordelia, Edkins, Sarah, Andrews, Robert, Blackburn, Hannah, Strange, Amy, Band, Gavin, Pearson, Richard D, Vukcevic, Damjan, Spencer, Chris C A, Deloukas, Panos, Mrowietz, Ulrich, Schreiber, Stefan, Weidinger, Stephan, Koks, Sulev, Kingo, Külli, Esko, Tonu, Metspalu, Andres, Lim, Henry W, Voorhees, John J, Weichenthal, Michael, Wichmann, H Erich, Chandran, Vinod, Rosen, Cheryl F, Rahman, Proton, Gladman, Dafna D, Griffiths, Christopher E M, Reis, Andre, Kere, Juha, Nair, Rajan P, Franke, Andre, Barker, Jonathan N W N, Abecasis, Goncalo R, Elder, James T, Trembath, Richard C

“…Richard Trembath and colleagues report a meta-analysis of genome-wide association studies for psoriasis, including 2 cohorts genotyped on the custom Immunochip…”
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Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer by Houlston, Richard S, Webb, Emily, Broderick, Peter, Pittman, Alan M, Di Bernardo, Maria Chiara, Lubbe, Steven, Chandler, Ian, Vijayakrishnan, Jayaram, Sullivan, Kate, Penegar, Steven, Carvajal-Carmona, Luis, Howarth, Kimberley, Jaeger, Emma, Spain, Sarah L, Walther, Axel, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Domingo, Enric, Teixeira, Ana S, Kerr, David, Cazier, Jean-Baptiste, Niittymäki, Iina, Tuupanen, Sari, Karhu, Auli, Aaltonen, Lauri A, Tomlinson, Ian P M, Farrington, Susan M, Tenesa, Albert, Prendergast, James G D, Barnetson, Rebecca A, Cetnarskyj, Roseanne, Porteous, Mary E, Pharoah, Paul D P, Koessler, Thibaud, Hampe, Jochen, Buch, Stephan, Schafmayer, Clemens, Tepel, Jurgen, Schreiber, Stefan, Völzke, Henry, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Zanke, Brent W, Montpetit, Alexandre, Hudson, Thomas J, Gallinger, Steven, Campbell, Harry, Dunlop, Malcolm G

“…Richard Houlston and colleagues identify four new susceptibility loci for colorectal cancer through a meta-analysis of genome-wide association data, followed…”
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Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling by Dand, Nick, Mucha, Sören, Tsoi, Lam C, Mahil, Satveer K, Stuart, Philip E, Arnold, Andreas, Baurecht, Hansjörg, Burden, A David, Callis Duffin, Kristina, Chandran, Vinod, Curtis, Charles J, Das, Sayantan, Ellinghaus, David, Ellinghaus, Eva, Enerback, Charlotta, Esko, Tõnu, Gladman, Dafna D, Griffiths, Christopher E M, Gudjonsson, Johann E, Hoffman, Per, Homuth, Georg, Hüffmeier, Ulrike, Krueger, Gerald G, Laudes, Matthias, Lee, Sang Hyuck, Lieb, Wolfgang, Lim, Henry W, Löhr, Sabine, Mrowietz, Ulrich, Müller-Nurayid, Martina, Nöthen, Markus, Peters, Annette, Rahman, Proton, Reis, André, Reynolds, Nick J, Rodriguez, Elke, Schmidt, Carsten O, Spain, Sarah L, Strauch, Konstantin, Tejasvi, Trilokraj, Voorhees, John J, Warren, Richard B, Weichenthal, Michael, Weidinger, Stephan, Zawistowski, Matthew, Nair, Rajan P, Capon, Francesca, Smith, Catherine H, Trembath, Richard C, Abecasis, Goncalo R, Elder, James T, Franke, Andre, Simpson, Michael A, Barker, Jonathan N

“…Psoriasis is a common inflammatory skin disorder for which multiple genetic susceptibility loci have been identified, but few resolved to specific functional…”
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Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes: e1004955 by Prescott, Natalie J, Lehne, Benjamin, Stone, Kristina, Lee, James C, Taylor, Kirstin, Knight, Jo, Papouli, Efterpi, Mirza, Muddassar M, Simpson, Michael A, Spain, Sarah L, Lu, Grace, Fraternali, Franca, Bumpstead, Suzannah J, Gray, Emma, Amar, Ariella, Bye, Hannah, Green, Peter, Chung-Faye, Guy, Hayee, Bu'Hussain, Pollok, Richard, Satsangi, Jack, Parkes, Miles, Barrett, Jeffrey C, Mansfield, John C, Sanderson, Jeremy, Lewis, Cathryn M, Weale, Michael E, Schlitt, Thomas, Mathew, Christopher G, Consortium, UK IBDGenetics

“…The contribution of rare coding sequence variants to genetic susceptibility in complex disorders is an important but unresolved question. Most studies thus far…”
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas by Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M, Domingo, Enric, Jones, Angela M, Broderick, Peter, Kemp, Zoe, Spain, Sarah L, Guarino, Estrella, Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G, Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B, Humphray, Sean, Thomas, Huw J W, Maher, Eamonn, Evans, Gareth, Lucassen, Anneke, Cummings, Carole, Stevens, Margaret, Walker, Lisa, Halliday, Dorothy, Armstrong, Ruth, Paterson, Joan, Hodgson, Shirley, Homfray, Tessa, Side, Lucy, Izatt, Louise, Donaldson, Alan, Tomkins, Susan, Morrison, Patrick, Goodman, Selina, Brewer, Carole, Henderson, Alex, Davidson, Rosemarie, Murday, Victoria, Cook, Jaqueline, Haites, Neva, Bishop, Timothy, Sheridan, Eamonn, Green, Andrew, Marks, Christopher, Carpenter, Sue, et. al

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