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

Autor: Manuel A. Rivas, Daniel Graham, Patrick Sulem, Christine Stevens, A. Nicole Desch, Philippe Goyette, Daniel Gudbjartsson, Ingileif Jonsdottir, Unnur Thorsteinsdottir, Frauke Degenhardt, Sören Mucha, Mitja I. Kurki, Dalin Li, Mauro D’Amato, Vito Annese, Severine Vermeire, Rinse K. Weersma, Jonas Halfvarson, Paulina Paavola-Sakki, Maarit Lappalainen, Monkol Lek, Beryl Cummings, Taru Tukiainen, Talin Haritunians, Leena Halme, Lotta L. E. Koskinen, Ashwin N. Ananthakrishnan, Yang Luo, Graham A. Heap, Marijn C. Visschedijk, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Daniel G. MacArthur, Benjamin M. Neale, Tariq Ahmad, Carl A. Anderson, Steven R. Brant, Richard H. Duerr, Mark S. Silverberg, Judy H. Cho, Aarno Palotie, Päivi Saavalainen, Kimmo Kontula, Martti Färkkilä, Dermot P. B. McGovern, Andre Franke, Kari Stefansson, John D. Rioux, Ramnik J. Xavier, Mark J. Daly

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-1 (2016)

Nature Communications 7 Article number: 12342 (2016); Published 9 August 2016; Updated 13 September 2016 The HTML version of this Article incorrectly listed the authors of the UK IBD Genetics Consortium and the NIDDK IBD Genetics Consortium individua

Externí odkaz: https://doaj.org/article/750183ef44f04abe937a2d55611517af

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

Autor: Richard H. Duerr, Dalin Li, Ming-Hsi Wang, Tariq Ahmad, John D. Rioux, Patrick Sulem, Daniel B. Graham, Steven R. Brant, Severine Vermeire, Mark Tremelling, James Lee, Leena Halme, K. de Lane, Miguel Regueiro, M Parkes, David C. Wilson, Alain Bitton, R. Milgrom, Daniel G. MacArthur, Marijn C. Visschedijk, Sören Mucha, Kenneth Croitoru, Alison Simmons, Mark S. Silverberg, Rinse K. Weersma, Jonas Halfvarson, Daniel L. Rice, J. M. Stempak, Christopher J. Hawkey, Mauro D'Amato, Christopher G. Mathew, Philippe Goyette, Frauke Degenhardt, Daniel F. Gudbjartsson, Mark J. Daly, Kari Stefansson, Beryl B. Cummings, Maarit Lappalainen, Päivi Saavalainen, Paulina Paavola-Sakki, P. Fleshner, Talin Haritunians, Joshua C. Randall, Elaine R. Nimmo, Taru Tukiainen, Christine Stevens, Subra Kugathasan, Monkol Lek, Andre Franke, Kimmo Kontula, Unnur Thorsteinsdottir, Andrew Hart, Martin O. Pollard, Gabrielle Boucher, Natalie J. Prescott, Benjamin M. Neale, Holm H. Uhlig, Carl A. Anderson, Ashwin N. Ananthakrishnan, Luke Jostins, C. Mowatt, Judy H. Cho, B. Newman, A. Nicole Desch, Yang Luo, Dermot P.B. McGovern, Clara Abraham, Ingileif Jonsdottir, Jeffrey C. Barrett, John C. Mansfield, Jean-Paul Achkar, Charlie W. Lees, Martti Färkkilä, Ramnik J. Xavier, S. R. Targan, Manuel A. Rivas, Deborah D. Proctor, Johan Van Limbergen, Nicholas A. Kennedy, Christopher A. Lamb, Jürgen Glas, Vito Annese, Yashoda Sharma, Phil Schumm, Graham A. Heap, Cathryn Edwards, Lotta L. E. Koskinen, Jack Satsangi, Mitja I. Kurki, Aarno Palotie

Publikováno v: Rivas, M A, Graham, D, Sulem, P, Stevens, C, Desch, A N, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, Mucha, S, Kurki, M I, Li, D, D'Amato, M, Annese, V, Vermeire, S, Weersma, R K, Halfvarson, J, Paavola-Sakki, P, Lappalainen, M, Lek, M, Cummings, B, Tukiainen, T, Haritunians, T, Halme, L, Koskinen, L L E, Ananthakrishnan, A N, Luo, Y, Heap, G A, Visschedijk, M C, MacArthur, D G, Neale, B M, Ahmad, T, Anderson, C A, Brant, S R, Duerr, R H, Silverberg, M S, Cho, J H, Palotie, A, Saavalainen, P, Kontula, K, Färkkilä, M, McGovern, D P B, Franke, A, Stefansson, K, Rioux, J D, Xavier, R J, Daly, M 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 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Rivas, M A, Graham, D, Sulem, P, Stevens, C, Desch, A N, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, Mucha, S, Kurki, M I, Li, D, D'Amato, M, Annese, V, Vermeire, S, Weersma, R K, Halfvarson, J, Paavola-Sakki, P, Lappalainen, M, Lek, M, Cummings, B, Tukiainen, T, Haritunians, T, Halme, L, Koskinen, L L E, Ananthakrishnan, A N, Luo, Y, Heap, G A, Visschedijk, M C, MacArthur, D G, Ahmad, T, Anderson, C A, Brant, S R, Duerr, R H, Silverberg, M S, Cho, J H, Palotie, A, Saavalainen, P, Kontula, K, Färkkilä, M, McGovern, D P B, Franke, A, Stefansson, K, Rioux, J D, Xavier, R J, Daly, M J, Hawkey, C, Mathew, C, Prescott, N 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
UK IBD Genetics Consortium & Newman, W 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
Nature Communications, 7:12342. Nature Publishing Group

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https://doi.org/10.1038/ncomms12342

A protein truncating R179X variant inRNF186confers protection against ulcerative colitis

Autor: Kari Stefansson, Tariq Ahmad, Daniel F. Gudbjartsson, Graham A. Heap, Monkol Lek, Richard H. Duerr, Dermot P.B. McGovern, Christine Stevens, Lotta L. E. Koskinen, Taru Tukiainen, Severine Vermeire, Mauro D'Amato, Sören Mucha, Steven R. Brant, Manuel A. Rivas, John D. Rioux, Judy H. Cho, Daniel G. MacArthur, Mark J. Daly, Unnur Thorsteinsdottir, Maarit Lappalainen, Marijn C. Visschedijk, Dalin Li, Daniel B. Graham, Päivi Saavalainen, Rinse K. Weersma, Philippe Goyette, Mitja I. Kurki, A. Nicole Desch, Aarno Palotie, Beryl B. Cummings, Frauke Degenhardt, Patrick Sulem, Andre Franke, Talin Haritunians, Mark S. Silverberg, Carl A. Anderson, Paulina Paavola-Sakki, Yang Luo, Ingileif Jonsdottir, Martti Färkkilä, Benjamin M. Neale, Vito Annese, Ashwin N. Ananthakrishnan, Leena Halme, Kimmo Kontula, Jonas Halfvarson, Ramnik J. Xavier

We conducted a search for protein truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. We found that a protein truncating variant (rs36095412, p.R179X,

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Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci

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Epidemiological and genetic linkage studies have indicated a strong genetic basis for development of inflammatory bowel disease (IBD) which was recently supported by discovery of the Crohn's disease (CD) susceptibility gene termed NOD2/CARD15. We car

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa335e9af3f5b56d5ae22c5d07b425ed
https://doi.org/10.1038/sj.ejhg.5200936

Detection of muramyl dipeptide-sensing pathway defects in monocytes of patients with Crohn's disease using phospho-specific whole blood flow cytometry

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https://pubmed.ncbi.nlm.nih.gov/23837874