Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Autor: Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M, Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K, Barakat, Farah, Auth, Marcus K H, Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P, Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C, Gilmour, Kimberly C, Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A, Fulga, Tudor A, Karaminejadranjbar, Mohammad, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C, Elkadri, Abdul, Griffiths, Anne M, Snapper, Scott B, Shah, Neil, Muise, Aleixo M, Wilson, David C, Uhlig, Holm H, Anderson, Carl A, Marlen, Zurek, Caterina, Strisciuglio, Mamoun, Elawad, Bernice, Lo, Carolina, Arancibia-Carcamo, Adam, Bailey, Ellie, Barnes, Elizabeth Louise, Bird-Lieberman, Oliver, Brain, Barbara, Braden, Jane, Collier, James, East, Lucy, Howarth, Satish, Keshav, Paul, Klenerman, Simon, Leedham, Rebecca, Palmer, Fiona, Powrie, Alison, Simmons, Matthew, Walker, Zoe, Tolkien, Stephen, Kaptoge, David, Allen, Susan, Mehenny, Jonathan, Mant, Emanuele, Di Angelantonio, Simon G, Thompson, Bahtiyar, Yilmaz, Pascal, Juillerat, Markus, Geuking, Reiner, Wiest, Andrew J, Macpherson, Francisco Damian, Bravo, Lukas, Brügger, Ove, Carstens, Ulrike Graf, Bigler, Benjamin, Heimgartner, Monica, Rusticeanu, Sybille, Schmid-Uebelhart, Bruno, Strebel, Aurora, Tatu, Radu, Tutuian, Ove, Øyås, Charlotte, Ramon, Jörg, Stelling, Yannick, Franc, Nicolas, Fournier, Valerie E H, Pittet, Bernard, Burnand, Mara, Egger, Delphine, Golay, Astrid, Marot, Leilla, Musso, Valérie, Pittet, Jean-Benoît, Rossel, Vivianne, Seematter, Joachim, Sommer, Rachel, Vulliamy, Pierre, Michetti, Michel H, Maillard, Céline, Keller, Andreas, Nydegger, Alain, Schoepfe, Eva, Archanioti, Jessica, Ezri, Montserrat, Fraga, Alain, Schoepfer, Christoph, Müller, Gerhard, Rogler, Luc, Biedermann, Mirjam, Blattmann, Sabine, Burk, Barbara, Dora, Michael, Fried, Benjamin, Misselwitz, Beat, Müllhaupt, Nicole, Obialo, Daniel, Pohl, Nadia, Raschle, Michael, Scharl, Stephan, Vavricka, Roland, Von Känel, Jonas, Zeitz, Karim, Abdelrahman, Gentiana, Ademi, Jan, Borovicka, Stephan, Brand, Remus, Frei, Johannes, Haarer, Christina, Knellwolf-Grieger, Claudia, Krieger-Grübel, Patrizia, Künzler, Christa, Meyenberger, Pamela, Meyer, Nina, Röhrich, Mikael, Sawatzki, Martin, Schelling, Gian-Marco, Semadeni, Michael, Sulz, Dorothee, Zimmermann, Patrick, Aepli, Dominique H, Criblez, Cyrill, Hess, Jean-Pierre, Richterich, Johannes, Spalinger, Dominic, Staudenmann, Andreas, Stulz, Stefanie, Wöhrle, Amman, Thomas, Claudia, Anderegg, Henrik, Köhler, Rachel, Kusche, Anca-Teodora, Antonino, Eviano, Arrigoni, José M, Bengoa, Sophie, Cunningham, Philippe, de Saussure, Laurent, Girard, Diana Bakker, de Jong, Polat, Bastürk, Simon, Brunner, Lukas, Degen, Petr, Hruz, Carolina, Khalid-de Bakker, Jan, Niess, Bruno, Balsiger, Janine, Haldemann, Gaby, Saner, Frank, Seibold, Peter, Bauerfeind, Andrea, Becocci, Dominique, Belli, Janek, Binek, Peter, Hengstler, Stephan, Boehm, Tujana, Boldanov, Patrick, Bühr, Rebekka, Koller, Vanessa, Rueger, Arne, Senning, Emanuel, Burri, Sophie, Buyse, Dahlia-Thao, Cao, Fabrizia, D'Angelo, Joakim, Delarive, Christopher, Doerig, Roxane, Hessler, Claudia, Preissler, Ronald, Rentsch, Branislav, Risti, Marc Alain, Ritz, Michael, Steuerwald, Jürg, Vögtlin, Markus, Sagmeister, Bernhard, Sauter, Susanne, Schibli, Christiane, Sokollik, Hugo, Schlauri, Jean-François, Schnegg, Mariam, Seirafi, Holger, Spangenberger, Philippe, Stadler, Peter, Staub, Volker, Stenz, Michela, Tempia-Caliera, Joël, Thorens, Kaspar, Truninger, Patrick, Urfer, Francesco, Viani, Dominique, Vouillamoz, Silvan, Zander, Tina, Wyli, L, Jostins, N A, Kennedy, T, Ahmad, C A, Lamb, C, Edwards, A, Hart, C, Hawkey, J C, Mansfield, C, Mowat, W G, Newman, A, Simmons, M, Tremelling, J C, Lee, N J, Prescott, C G, Mathew, C W, Lees, D P B, McGovern, S R, Targan, G, Botwin, E, Mengesha, P, Fleshner, C, Landers, D, Li, J D, Rioux, A, Bitton, J, Côté-Daigneault, M J, Daly, R, Xavier, K, Morris, G, Boucher, J H, Cho, C, Abraham, M, Merad, B, Sands, I, Peter, K, Hao, Y, Itan, R H, Duerr, L, Konnikova, M B, Schwartz, S, Proksell, E, Johnston, V, Miladinova, W, Chen, S R, Brant, L, Datta, M S, Silverberg, L P, Schumm, S, Birch, M, Giri, K, Gettler, Y, Sharma, C, Stevens, M, Lazarev, T, Haritunians

Publikováno v: Nature communications, Vol. 11, no. 1, p. 995 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications
Serra, Eva Gonçalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K; Barakat, Farah; Auth, Marcus K H; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P; Satsangi, Jack; Parkes, Miles; ... (2020). Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nature communications, 11(1), p. 995. 10.1038/s41467-019-14275-y
Nature communications, vol. 11, no. 1, pp. 995
Serra, E G, Schwerd, T, Moutsianas, L, Cavounidis, A, Fachal, L, Pandey, S, Kammermeier, J, Croft, N M, Posovszky, C, Rodrigues, A, Russell, R K, Barakat, F, Auth, M K H, Heuschkel, R, Zilbauer, M, Fyderek, K, Braegger, C, Travis, S P, Satsangi, J, Parkes, M, Thapar, N, Ferry, H, Matte, J C, Gilmour, K C, Wedrychowicz, A, Sullivan, P, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Baeumler, T A, Fulga, T A, Karaminejadranjbar, M, Ahmed, A, Wilson, R, Barrett, J C, Elkadri, A, Griffiths, A M, Snapper, S B, Shah, N, Muise, A M, Wilson, D C, Uhlig, H H & Anderson, C A 2020, ' Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease ', Nature Communications, vol. 11, no. 1, 995 . https://doi.org/10.1038/s41467-019-14275-y
Nature Communications, 11 (1)

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282851f8bc740bd242ba5ac671511a88
https://ora.ox.ac.uk/objects/uuid:e074342c-af9d-41fd-a898-9b6570bb5151

Author Correction: Uncoupling of invasive bacterial mucosal immunogenicity from pathogenicity.

Autor: Pfister, Simona P., Schären, Olivier P., Beldi, Luca, Printz, Andrea, Notter, Matheus D., Mukherjee, Mohana, Li, Hai, Limenitakis, Julien P., Werren, Joel P., Tandon, Disha, Cuenca, Miguelangel, Hagemann, Stefanie, Uster, Stephanie S., Terrazos, Miguel A., de Agüero, Mercedes Gomez, Schürch, Christian M., Coelho, Fernanda M., Curtiss III, Roy, Slack, Emma, Balmer, Maria L.

Publikováno v: Nature Communications; 1/29/2021, Vol. 12 Issue 1, p1-1, 1p

Intestinal fungi are causally implicated in microbiome assembly and immune development in mice.

Autor: van Tilburg Bernardes, Erik, Pettersen, Veronika Kuchařová, Gutierrez, Mackenzie W., Laforest-Lapointe, Isabelle, Jendzjowsky, Nicholas G., Cavin, Jean-Baptiste, Vicentini, Fernando A., Keenan, Catherine M., Ramay, Hena R., Samara, Jumana, MacNaughton, Wallace K., Wilson, Richard J. A., Kelly, Margaret M., McCoy, Kathy D., Sharkey, Keith A., Arrieta, Marie-Claire

Publikováno v: Nature Communications; 5/22/2020, Vol. 11 Issue 1, p1-16, 16p

Host Responses to Intestinal Microbial Antigens in Gluten-Sensitive Mice.

Autor: Natividad, Jane M.¹, Xianxi Huang¹, Slack, Emma¹, Jury, Jennifer¹, Sanz, Yolanda², David, Chella³, Denou, Emmanuel¹, Pinchang Yang⁴, Murray, Joseph⁵, McCoy, Kathy D.¹, Verdú, Elena F.¹ verdue@mcmaster.ca

Publikováno v: PLoS ONE. 2009, Vol. 4 Issue 7, p1-11. 11p. 8 Graphs.

Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Autor: Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K., Barakat, Farah, Auth, Marcus K. H., Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P., Satsangi, Jack, Parkes, Miles

Publikováno v: Nature Communications; 6/22/2022, Vol. 13 Issue 1, p1-1, 1p