日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

大规模测序鉴定出多个与克罗恩病易感性相关的基因和罕见变异

Sazonovs, Aleksejs; Stevens, Christine R; Venkataraman, Guhan R; Yuan, Kai; Avila, Brandon; Abreu, Maria T; Ahmad, Tariq; Allez, Matthieu; Ananthakrishnan, Ashwin N; Atzmon, Gil; Baras, Aris; Barrett, Jeffrey C; Barzilai, Nir; Beaugerie, Laurent; Beecham, Ashley; Bernstein, Charles N; Bitton, Alain; Bokemeyer, Bernd; Chan, Andrew; Chung, Daniel; Cleynen, Isabelle; Cosnes, Jacques; Cutler, David J; Daly, Allan; Damas, Oriana M; Datta, Lisa W; Dawany, Noor; Devoto, Marcella; Dodge, Sheila; Ellinghaus, Eva; Fachal, Laura; Farkkila, Martti; Faubion, William; Ferreira, Manuel; Franchimont, Denis; Gabriel, Stacey B; Ge, Tian; Georges, Michel; Gettler, Kyle; Giri, Mamta; Glaser, Benjamin; Goerg, Siegfried; Goyette, Philippe; Graham, Daniel; Hämäläinen, Eija; Haritunians, Talin; Heap, Graham A; Hiltunen, Mikko; Hoeppner, Marc; Horowitz, Julie E; Irving, Peter; Iyer, Vivek; Jalas, Chaim; Kelsen, Judith; Khalili, Hamed; Kirschner, Barbara S; Kontula, Kimmo; Koskela, Jukka T; Kugathasan, Subra; Kupcinskas, Juozas; Lamb, Christopher A; Laudes, Matthias; Lévesque, Chloé; Levine, Adam P; Lewis, James D; Liefferinckx, Claire; Loescher, Britt-Sabina; Louis, Edouard; Mansfield, John; May, Sandra; McCauley, Jacob L; Mengesha, Emebet; Mni, Myriam; Moayyedi, Paul; Moran, Christopher J; Newberry, Rodney D; O'Charoen, Sirimon; Okou, David T; Oldenburg, Bas; Ostrer, Harry; Palotie, Aarno; Paquette, Jean; Pekow, Joel; Peter, Inga; Pierik, Marieke J; Ponsioen, Cyriel Y; Pontikos, Nikolas; Prescott, Natalie; Pulver, Ann E; Rahmouni, Souad; Rice, Daniel L; Saavalainen, Päivi; Sands, Bruce; Sartor, R Balfour; Schiff, Elena R; Schreiber, Stefan; Schumm, L Philip; Segal, Anthony W; Seksik, Philippe; Shawky, Rasha; Sheikh, Shehzad Z; Silverberg, Mark S; Simmons, Alison; Skeiceviciene, Jurgita; Sokol, Harry; Solomonson, Matthew; Somineni, Hari; Sun, Dylan; Targan, Stephan; Turner, Dan; Uhlig, Holm H; van der Meulen, Andrea E; Vermeire, Séverine; Verstockt, Sare; Voskuil, Michiel D; Winter, Harland S; Young, Justine; Duerr, Richard H; Franke, Andre; Brant, Steven R; Cho, Judy; Weersma, Rinse K; Parkes, Miles; Xavier, Ramnik J; Rivas, Manuel A; Rioux, John D; McGovern, Dermot P B; Huang, Hailiang; Anderson, Carl A; Daly, Mark J

Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease

NUDT15基因变异与炎症性肠病患者硫嘌呤诱导的骨髓抑制的相关性

Walker, Gareth J; Harrison, James W; Heap, Graham A; Voskuil, Michiel D; Andersen, Vibeke; Anderson, Carl A; Ananthakrishnan, Ashwin N; Barrett, Jeffrey C; Beaugerie, Laurent; Bewshea, Claire M; Cole, Andy T; Cummings, Fraser R; Daly, Mark J; Ellul, Pierre; Fedorak, Richard N; Festen, Eleonora A M; Florin, Timothy H; Gaya, Daniel R; Halfvarson, Jonas; Hart, Ailsa L; Heerasing, Neel M; Hendy, Peter; Irving, Peter M; Jones, Samuel E; Koskela, Jukka; Lindsay, James O; Mansfield, John C; McGovern, Dermot; Parkes, Miles; Pollok, Richard C G; Ramakrishnan, Subramaniam; Rampton, David S; Rivas, Manuel A; Russell, Richard K; Schultz, Michael; Sebastian, Shaji; Seksik, Philippe; Singh, Abhey; So, Kenji; Sokol, Harry; Subramaniam, Kavitha; Todd, Anthony; Annese, Vito; Weersma, Rinse K; Xavier, Ramnik; Ward, Rebecca; Weedon, Michael N; Goodhand, James R; Kennedy, Nicholas A; Ahmad, Tariq

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

RNF186 中的蛋白质截短变体 R179X 可预防溃疡性结肠炎

Rivas Manuel A, Graham Daniel, Sulem Patrick, Stevens Christine, Desch A Nicole, Goyette Philippe, Gudbjartsson Daniel, Jonsdottir Ingileif, Thorsteinsdottir Unnur, Degenhardt Frauke, Mucha Sören, Kurki Mitja I, Li Dalin, D'Amato Mauro, Annese Vito, Vermeire Severine, Weersma Rinse K, Halfvarson Jonas, Paavola-Sakki Paulina, Lappalainen Maarit, Lek Monkol, Cummings Beryl, Tukiainen Taru, Haritunians Talin, Halme Leena, Koskinen Lotta L E, Ananthakrishnan Ashwin N, Luo Yang, Heap Graham A, Visschedijk Marijn C, MacArthur Daniel G, Neale Benjamin M, Ahmad Tariq, Anderson Carl A, Brant Steven R, Duerr Richard H, Silverberg Mark S, Cho Judy H, Palotie Aarno, Saavalainen Päivi, Kontula Kimmo, Färkkilä Martti, McGovern Dermot P B, Franke Andre, Stefansson Kari, Rioux John D, Xavier Ramnik J, Daly Mark J, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar J P, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen J V, Milgrom R, Proctor D, Regueiro M, Schumm P L, Sharma Y, Stempak J M, Targan S R, Wang M H

HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants

HLA-DQA1-HLA-DRB1 变异体赋予对硫嘌呤类免疫抑制剂诱发的胰腺炎的易感性

Heap, Graham A; Weedon, Michael N; Bewshea, Claire M; Singh, Abhey; Chen, Mian; Satchwell, Jack B; Vivian, Julian P; So, Kenji; Dubois, Patrick C; Andrews, Jane M; Annese, Vito; Bampton, Peter; Barnardo, Martin; Bell, Sally; Cole, Andy; Connor, Susan J; Creed, Tom; Cummings, Fraser R; D'Amato, Mauro; Daneshmend, Tawfique K; Fedorak, Richard N; Florin, Timothy H; Gaya, Daniel R; Greig, Emma; Halfvarson, Jonas; Hart, Alisa; Irving, Peter M; Jones, Gareth; Karban, Amir; Lawrance, Ian C; Lee, James C; Lees, Charlie; Lev-Tzion, Raffi; Lindsay, James O; Mansfield, John; Mawdsley, Joel; Mazhar, Zia; Parkes, Miles; Parnell, Kirstie; Orchard, Timothy R; Radford-Smith, Graham; Russell, Richard K; Reffitt, David; Satsangi, Jack; Silverberg, Mark S; Sturniolo, Giacomo C; Tremelling, Mark; Tsianos, Epameinondas V; van Heel, David A; Walsh, Alissa; Watermeyer, Gill; Weersma, Rinse K; Zeissig, Sebastian; Rossjohn, Jamie; Holden, Arthur L; Ahmad, Tariq

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

密集基因分型可识别并定位乳糜泻中多种常见和罕见变异关联信号

Trynka, Gosia; Hunt, Karen A; Bockett, Nicholas A; Romanos, Jihane; Mistry, Vanisha; Szperl, Agata; Bakker, Sjoerd F; Bardella, Maria Teresa; Bhaw-Rosun, Leena; Castillejo, Gemma; de la Concha, Emilio G; de Almeida, Rodrigo Coutinho; Dias, Kerith-Rae M; van Diemen, Cleo C; Dubois, Patrick C A; Duerr, Richard H; Edkins, Sarah; Franke, Lude; Fransen, Karin; Gutierrez, Javier; Heap, Graham A R; Hrdlickova, Barbara; Hunt, Sarah; Plaza Izurieta, Leticia; Izzo, Valentina; Joosten, Leo A B; Langford, Cordelia; Mazzilli, Maria Cristina; Mein, Charles A; Midah, Vandana; Mitrovic, Mitja; Mora, Barbara; Morelli, Marinita; Nutland, Sarah; Núñez, Concepción; Onengut-Gumuscu, Suna; Pearce, Kerra; Platteel, Mathieu; Polanco, Isabel; Potter, Simon; Ribes-Koninckx, Carmen; Ricaño-Ponce, Isis; Rich, Stephen S; Rybak, Anna; Santiago, José Luis; Senapati, Sabyasachi; Sood, Ajit; Szajewska, Hania; Troncone, Riccardo; Varadé, Jezabel; Wallace, Chris; Wolters, Victorien M; Zhernakova, Alexandra; Thelma, B K; Cukrowska, Bozena; Urcelay, Elena; Bilbao, Jose Ramon; Mearin, M Luisa; Barisani, Donatella; Barrett, Jeffrey C; Plagnol, Vincent; Deloukas, Panos; Wijmenga, Cisca; van Heel, David A

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

在多达 66,924 名欧洲血统个体中,罕见且功能性的 SIAE 变异与自身免疫性疾病风险无关。

Hunt, Karen A; Smyth, Deborah J; Balschun, Tobias; Ban, Maria; Mistry, Vanisha; Ahmad, Tariq; Anand, Vidya; Barrett, Jeffrey C; Bhaw-Rosun, Leena; Bockett, Nicholas A; Brand, Oliver J; Brouwer, Elisabeth; Concannon, Patrick; Cooper, Jason D; Dias, Kerith-Rae M; van Diemen, Cleo C; Dubois, Patrick C; Edkins, Sarah; Fölster-Holst, Regina; Fransen, Karin; Glass, David N; Heap, Graham A R; Hofmann, Sylvia; Huizinga, Tom W J; Hunt, Sarah; Langford, Cordelia; Lee, James; Mansfield, John; Marrosu, Maria Giovanna; Mathew, Christopher G; Mein, Charles A; Müller-Quernheim, Joachim; Nutland, Sarah; Onengut-Gumuscu, Suna; Ouwehand, Willem; Pearce, Kerra; Prescott, Natalie J; Posthumus, Marcel D; Potter, Simon; Rosati, Giulio; Sambrook, Jennifer; Satsangi, Jack; Schreiber, Stefan; Shtir, Corina; Simmonds, Matthew J; Sudman, Marc; Thompson, Susan D; Toes, Rene; Trynka, Gosia; Vyse, Timothy J; Walker, Neil M; Weidinger, Stephan; Zhernakova, Alexandra; Zoledziewska, Magdalena; Weersma, Rinse K; Gough, Stephen C L; Sawcer, Stephen; Wijmenga, Cisca; Parkes, Miles; Cucca, Francesco; Franke, Andre; Deloukas, Panos; Rich, Stephen S; Todd, John A; van Heel, David A