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A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
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.
Afiliação
  • Rivas MA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Graham D; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Sulem P; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Stevens C; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.
  • Desch AN; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Goyette P; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Gudbjartsson D; Research Center, Montreal Heart Institute, Montréal, Québec, Canada H1T1C8.
  • Jonsdottir I; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.
  • Thorsteinsdottir U; School of Engineering and Natural Sciences, University of Iceland, 101 Reykjavik, Iceland.
  • Degenhardt F; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.
  • Mucha S; Department of Immunology, Landspitali, the National University Hospital of Iceland, 101 Reykjavik, Iceland.
  • Kurki MI; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
  • Li D; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.
  • D'Amato M; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
  • Annese V; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, 24118 Kiel, Germany.
  • Vermeire S; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, 24118 Kiel, Germany.
  • Weersma RK; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Halfvarson J; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Paavola-Sakki P; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
  • Lappalainen M; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, California 90048 USA.
  • Lek M; Department of Biosciences and Nutrition, Karolinska Institutet, 14183 Stockholm, Sweden.
  • Cummings B; BioCruces Health Research Institute and IKERBASQUE, Basque Foundation for Science, 48903 Bilbao, Spain.
  • Tukiainen T; Unit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital, 71013 San Giovanni Rotondo, Italy.
  • Haritunians T; Strutture Organizzative Dipartimentali (SOD) Gastroenterologia 2, Azienda Ospedaliero Universitaria (AOU) Careggi, 50134 Florence, Italy.
  • Halme L; Department of Clinical and Experimental Medicine, Translational Research in GastroIntestinal Disorders (TARGID), Katholieke Universiteit (KU) Leuven, Leuven 3000, Belgium.
  • Koskinen LL; Division of Gastroenterology, University Hospital Gasthuisberg, BE-3000 Leuven, Belgium.
  • Ananthakrishnan AN; Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
  • Luo Y; Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, SE 701 82 Örebro, Sweden.
  • Heap GA; Department of Medicine, University of Helsinki, 00100 Helsinki, Finland.
  • Visschedijk MC; Helsinki University Hospital, 00100 Helsinki, Finland.
  • MacArthur DG; Helsinki University Hospital, 00100 Helsinki, Finland.
  • Neale BM; Research Programs Unit, Immunobiology, and Department of Medical and Clinical Genetics, University of Helsinki, 00014 Helsinki, Finland.
  • Ahmad T; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Anderson CA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Brant SR; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Duerr RH; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Silverberg MS; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Cho JH; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Palotie A; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
  • Saavalainen P; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, California 90048 USA.
  • Kontula K; Department of Transplantation and Liver Surgery, University of Helsinki, 00100 Helsinki, Finland.
  • Färkkilä M; Research Programs Unit, Immunobiology, and Department of Medical and Clinical Genetics, University of Helsinki, 00014 Helsinki, Finland.
  • McGovern DP; Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, 00100 Helsinki, Finland.
  • Franke A; Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Stefansson K; Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Rioux JD; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
  • Xavier RJ; IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter EX2 5DW, UK.
  • Daly MJ; Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
Nat Commun ; 7: 12342, 2016 08 09.
Article em En | MEDLINE | ID: mdl-27503255
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colite Ulcerativa / Ubiquitina-Proteína Ligases / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colite Ulcerativa / Ubiquitina-Proteína Ligases / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article