Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Paulina Paavola-Sakki"'
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 1-8 (2016)
While hundreds of loci are linked with inflammatory bowel diseases (IBDs), the functional consequences of the associated variants remain unclear. Here, the authors screened in ulcerative colitis (UC) patients’ genomes for protein-truncating variant
Externí odkaz:
https://doaj.org/article/7ec515461747449295bc0f9f7b59f420
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
Autor:
Pertti Sistonen, Jukka Partanen, Markku Mäki, Maarit Lappalainen, Ulla Turunen, Kalle Kurppa, Kimmo Kontula, Noora Alakulppi, Katri Kaukinen, Katri Lindfors, Elisabet Einarsdottir, Päivi Saavalainen, Amarjit Parmar, Pirjo Wacklin, Paulina Paavola-Sakki, Leena Halme, Jaana Mättö, Martti Färkkilä
Publikováno v:
Tissue Antigens. 80:488-493
Homozygosity for a nonsense mutation in the fucosyltransferase 2 (FUT2) gene (rs601338G>A) leads to the absence of ABH blood groups (FUT2 non-secretor status) in body fluids. As the secretor status has been shown to be a major determinant for the gut
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
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
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Protein-truncating variants protective agains
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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2dbf94091ab139e34b938d377505c0
https://doi.org/10.1101/035105
https://doi.org/10.1101/035105
Autor:
Leena Halme, Maarit Lappalainen, Paulina Paavola-Sakki, Elisabet Einarsdottir, Martti Färkkilä, Ulla Turunen, Kimmo Kontula, Päivi Saavalainen
Publikováno v:
Inflammatory Bowel Diseases. 14:1118-1124
Background: Crohn's disease (CD) and ulcerative colitis (UC), 2 major forms of inflammatory bowel disease (IBD), are complex disorders with significant genetic predisposition. The first CD-associated gene, CARD15/NOD2, was recently identified and sin
Autor:
Graham L. Radford-Smith, Jean-Pierre Hugot, Dermot P.B. McGovern, Juleen A. Cavanaugh, Robert Vlietinck, Paulina Paavola-Sakki, Huiying Yang, Mark S. Silverberg, Steven R. Brant, M. Michael Barmada, Judy H. Cho, Kent D. Taylor, Marie J. Pierik, Vito Annese, Richard H. Duerr, Stephan Schreiber, Paul Pavli
Publikováno v:
Inflammatory Bowel Diseases, 11(1), 1-7. LIPPINCOTT WILLIAMS & WILKINS
BACKGROUND AND AIMS: The inflammatory bowel diseases (IBDs) Crohn's disease (CD) and ulcerative colitis are complex disorders with an important genetic determinant. One gene associated with CD has been identified: NOD2/CARD15. Two independent genome-
Autor:
Ulla Turunen, Leena Halme, Maija Lappalainen, Martti Färkkilä, Tom Krusius, Tiina Heliö, H Fodstad, Paulina Paavola-Sakki, Kimmo Kontula
Publikováno v:
Gut. 52:558-562
Background: Variants of the caspase activating recruitment domain 15/nucleotide oligomerisation domain 2 (CARD15/NOD2) gene have been associated with susceptibility to Crohn’s disease (CD). Aim: Our aim was to evaluate the allele frequencies of the
Autor:
Ulla Turunen, Martti Färkkilä, Maarit Lappalainen, Kimmo Kontula, Vesa Ollikainen, Tiina Heliö, Leena Halme, Paulina Paavola-Sakki, Päivi Lahermo
Publikováno v:
European Journal of Human Genetics. 11:112-120
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
Autor:
Paulina Paavola-Sakki, Agata Szperl, Cisca Wijmenga, Maarit Lappalainen, Kimmo Kontula, Päivi Saavalainen, Cyriel Y. Ponsioen, Martti Färkkilä, Leena Halme, C. C. van Diemen, Rinse K. Weersma, Ulla Turunen
Publikováno v:
Inflammatory Bowel Diseases, 17(6), E38-E40. LIPPINCOTT WILLIAMS & WILKINS
Inflammatory bowel diseases, 17(6), E38-E40. John Wiley and Sons Inc.
Inflammatory bowel diseases, 17(6), E38-E40. John Wiley and Sons Inc.