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Anzahl der Publikationen: 17
Zeitschriftenartikel
Ghalandary, Maryam; Li, Yue; Frohlich, Thomas; Magg, Thomas; Liu, Yanshan; Rohlfs, Meino; Hollizeck, Sebastian; Conca, Raffaele; Schwerd, Tobias; Uhlig, Holm H.; Bufler, Philip; Koletzko, Sibylle; Muise, Aleixo M.; Snapper, Scott B.; Hauck, Fabian; Klein, Christoph und Kotlarz, Daniel
(2022):
Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.
In: Scientific Reports, Bd. 12, Nr. 1, 3906
Bolton, Chrissy; Smillie, Christopher S.; Pandey, Sumeet; Elmentaite, Rasa; Wei, Gabrielle; Argmann, Carmen; Aschenbrenner, Dominik; James, Kylie R.; McGovern, Dermot P. B.; Macchi, Marina; Cho, Judy; Shouval, Dror S.; Kammermeier, Jochen; Koletzko, Sibylle; Bagalopal, Krithika; Capitani, Melania; Cavounidis, Athena; Pires, Elisabete; Weidinger, Carl; McCullagh, James; Arkwright, Peter D.; Haller, Wolfram; Siegmund, Britta; Peters, Lauren; Jostins, Luke; Travis, Simon P. L.; Anderson, Carl A.; Snapper, Scott; Klein, Christoph; Schadt, Eric; Zilbauer, Matthias; Xavier, Ramnik; Teichmann, Sarah; Muise, Aleixo M.; Regev, Aviv und Uhlig, Holm H.
(2022):
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.
In: Gastroenterology, Bd. 162, Nr. 3: S. 859-876
Aschenbrenner, Dominik; Ye, Ziqing; Zhou, Ying; Hu, Wenhui; Brooks, Isabel; Williams, Isabelle; Capitani, Melania; Gartner, Lisa; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Muise, Aleixo M.; Marsden, Brian D.; Huang, Ying und Uhlig, Holm H.
(2022):
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
In: Journal of Clinical Immunology, Bd. 43, Nr. 2: S. 495-511
Ye, Ziqing; Hu, Wenhui; Wu, Bingbing; Zhang, Yueping; Lei, Caixia; Williams, Isabelle; Shouval, Dror S.; Kanegane, Hirokazu; Kim, Kyung Mo; de Ridder, Lissy; Shah, Neil; Ling, Galina; Yerushalmi, Baruch; Kotlarz, Daniel; Snapper, Scott; Horn, Ruth; Klein, Christoph; Muise, Aleixo M.; Huang, Ying und Uhlig, Holm H.
(2021):
Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.
In: Journal of Pediatric Gastroenterology and Nutrition, Bd. 72, Nr. 2: S. 276-281
Wang, Lin; Aschenbrenner, Dominik; Zeng, Zhiyang; Cao, Xiya; Mayr, Daniel; Mehta, Meera; Capitani, Melania; Warner, Neil; Pan, Jie; Wang, Liren; Li, Qi; Zuo, Tao; Cohen-Kedar, Sarit; Lu, Jiawei; Ardy, Rico Chandra; Mulder, Daniel J.; Dissanayake, Dilan; Peng, Kaiyue; Huang, Zhiheng; Li, Xiaoqin; Wang, Yuesheng; Wang, Xiaobing; Li, Shuchao; Bullers, Samuel; Gammage, Anis N.; Warnatz, Klaus; Schiefer, Ana-Iris; Krivan, Gergely; Goda, Vera; Kahr, Walter H. A.; Lemaire, Mathieu; Lu, Chien-Yi; Siddiqui, Iram; Surette, Michael G.; Kotlarz, Daniel; Engelhardt, Karin R.; Griffin, Helen R.; Rottapel, Robert; Decaluwe, Helene; Laxer, Ronald M.; Proietti, Michele; Hambleton, Sophie; Elcombe, Suzanne; Guo, Cong-Hui; Grimbacher, Bodo; Dotan, Iris; Ng, Siew C.; Freeman, Spencer A.; Snapper, Scott B.; Klein, Christoph; Boztug, Kaan; Huang, Ying; Li, Dali; Uhlig, Holm H. und Muise, Aleixo M.
(2021):
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
In: Nature Genetics, Bd. 53, Nr. 4: S. 500-510
Uhlig, Holm H.; Charbit-Henrion, Fabienne; Kotlarz, Daniel; Shouval, Dror S.; Schwerd, Tobias; Strisciuglio, Caterina; Ridder, Lissy de; Limbergen, Johan van; Macchi, Marina; Snapper, Scott B.; Ruemmele, Frank M.; Wilson, David C.; Travis, Simon P. L.; Griffiths, Anne M.; Turner, Dan; Klein, Christoph; Muise, Aleixo M. und Russell, Richard K.
(2021):
Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition.
In: Journal of Pediatric Gastroenterology and Nutrition, Bd. 72, Nr. 3: S. 456-473
Norsa, Lorenzo; Canani, Roberto Berni; Duclaux-Loras, Remi; Bequet, Emeline; Koeglmeier, Jutta; Russell, Richard K.; Uhlig, Holm H.; Travis, Simon; Hollis, Jennifer; Koletzko, Sibylle; Grimaldi, Giusi; Castaldo, Giuseppe; Rodrigues, Astor; Deflandre, Jaques; Dembinski, Lukasz; Shah, Neil; Heinz-Erian, Peter; Janecke, Andreas; Leskinen, Saara; Wedenoja, Satu; Koskela, Ritva; Lachaux, Alain; Kolho, Kaija-Leena und Ruemmele, Frank M.
(2021):
Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea.
In: Journal of Crohns & Colitis, Bd. 15, Nr. 10: S. 1679-1685
Serra, Eva Goncalves; 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.; Zurek, Marlen; Strisciuglio, Caterina; Elawad, Mamoun; Lo, Bernice; Arancibia-Carcamo, Carolina; Bailey, Adam; Barnes, Ellie; Bird-Lieberman, Elizabeth Louise; Brain, Oliver; Braden, Barbara; Collier, Jane; East, James; Howarth, Lucy; Keshav, Satish; Klenerman, Paul; Leedham, Simon; Palmer, Rebecca; Powrie, Fiona; Simmons, Alison; Walker, Matthew; Tolkien, Zoe; Kaptoge, Stephen; Allen, David; Mehenny, Susan; Mant, Jonathan; Di Angelantonio, Emanuele; Thompson, Simon G.; Yilmaz, Bahtiyar; Juillerat, Pascal; Geuking, Markus; Wiest, Reiner; Macpherson, Andrew J.; Bravo, Francisco Damian; Brugger, Lukas; Carstens, Ove; Bigler, Ulrike Graf; Heimgartner, Benjamin; Rusticeanu, Monica; Schmid-Uebelhart, Sybille; Strebel, Bruno; Tatu, Aurora; Tutuian, Radu; Wiest, Reiner; Oyas, Ove; Ramon, Charlotte; Stelling, Jorg; Franc, Yannick; Fournier, Nicolas; Pittet, Valerie E. H.; Burnand, Bernard; Egger, Mara; Franc, Yannick; Golay, Delphine; Marot, Astrid; Musso, Leilla; Pittet, Valerie; Rossel, Jean-Benoit; Seematter, Vivianne; Sommer, Joachim; Vulliamy, Rachel; Michetti, Pierre; Maillard, Michel H.; Keller, Celine; Maillard, Michel H.; Nydegger, Andreas; Schoepfe, Alain; Archanioti, Eva; Ezri, Jessica; Fraga, Montserrat; Schoepfer, Alain; Müller, Christoph; Rogler, Gerhard; Biedermann, Luc; Blattmann, Mirjam; Burk, Sabine; Dora, Barbara; Fried, Michael; Misselwitz, Benjamin; Mullhaupt, Beat; Obialo, Nicole; Pohl, Daniel; Raschle, Nadia; Rogler, Gerhard; Scharl, Michael; Vavricka, Stephan; Kanel, Roland von; Zeitz, Jonas; Abdelrahman, Karim; Ademi, Gentiana; Borovicka, Jan; Brand, Stephan; Frei, Remus; Haarer, Johannes; Grieger, Christina Knellwolf; Krieger-Grubel, Claudia; Kunzler, Patrizia; Meyenberger, Christa; Meyer, Pamela; Rohrich, Nina; Sawatzki, Mikael; Schelling, Martin; Semadeni, Gian-Marco; Sulz, Michael; Zimmermann, Dorothee; Aepli, Patrick; Criblez, Dominique H.; Hess, Cyrill; Richterich, Jean-Pierre; Spalinger, Johannes; Staudenmann, Dominic; Stulz, Andreas; Wohrle, Stefanie; Thomas, Amman; Anderegg, Claudia; Kohler, Henrik; Kusche, Rachel; Antonino, Anca-Teodora; Arrigoni, Eviano; Bengoa, Jose M.; Cunningham, Sophie; de Saussure, Philippe; Girard, Laurent; Bakker de Jong, Diana; Basturk, Polat; Brunner, Simon; Degen, Lukas; Hruz, Petr; Khalid-de Bakker, Carolina; Niess, Jan; Balsiger, Bruno; Haldemann, Janine; Saner, Gaby; Seibold, Frank; Bauerfeind, Peter; Becocci, Andrea; Belli, Dominique; Binek, Janek; Hengstler, Peter; Boehm, Stephan; Boldanov, Tujana; Buhr, Patrick; Koller, Rebekka; Rueger, Vanessa; Senning, Arne; Burri, Emanuel; Buyse, Sophie; Cao, Dahlia-Thao; D'Angelo, Fabrizia; Delarive, Joakim; Doerig, Christopher; Hessler, Roxane; Preissler, Claudia; Rentsch, Ronald; Risti, Branislav; Ritz, Marc Alain; Steuerwald, Michael; Vogtlin, Jurg; Sagmeister, Markus; Sauter, Bernhard; Schibli, Susanne; Sokollik, Christiane; Spalinger, Johannes; Schlauri, Hugo; Schnegg, Jean-Francois; Seirafi, Mariam; Spangenberger, Holger; Stadler, Philippe; Staub, Peter; Stenz, Volker; Tempia-Caliera, Michela; Thorens, Joel; Truninger, Kaspar; Urfer, Patrick; Viani, Francesco; Vouillamoz, Dominique; Zander, Silvan; Wyli, Tina; Jostins, L.; Kennedy, N. A.; Ahmad, T.; Lamb, C. A.; Edwards, C.; Hart, A.; Hawkey, C.; Mansfield, J. C.; Mowat, C.; Newman, W. G.; Simmons, A.; Tremelling, M.; Lee, J. C.; Prescott, N. J.; Mathew, C. G.; Lees, C. W.; McGovern, D. P. B.; Targan, S. R.; Botwin, G.; Mengesha, E.; Fleshner, P.; Landers, C.; Li, D.; Rioux, J. D.; Bitton, A.; Cote-Daigneault, J.; Daly, M. J.; Xavier, R.; Morris, K.; Boucher, G.; Cho, J. H.; Abraham, C.; Merad, M.; Sands, B.; Peter, I.; Hao, K.; Itan, Y.; Duerr, R. H.; Konnikova, L.; Schwartz, M. B.; Proksell, S.; Johnston, E.; Miladinova, V.; Chen, W.; Brant, S. R.; Datta, L.; Silverberg, M. S.; Schumm, L. P.; Birch, S.; Giri, M.; Gettler, K.; Sharma, Y.; Stevens, C.; Lazarev, M. und Haritunians, T.
(2020):
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
In: Nature Communications, Bd. 11, Nr. 1, 995
[PDF, 1MB]
Mukhopadhyay, Subhankar; Heinz, Eva; Porreca, Immacolata; Alasoo, Kaur; Yeung, Amy; Yang, Huei-Ting; Schwerd, Tobias; Forbester, Jessica L.; Hale, Christine; Agu, Chukwuma A.; Choi, Yoon Ha; Rodrigues, Julia; Capitani, Melania; Jostins-Dean, Luke; Thomas, David C.; Travis, Simon; Gaffney, Daniel; Skarnes, William C.; Thomson, Nicholas; Uhlig, Holm H.; Dougan, Gordon und Powrie, Fiona
(2020):
Loss of IL-10 signaling in macrophages limits bacterial killing driven by prostaglandin E2.
In: Journal of Experimental Medicine, Bd. 217, Nr. 2
Schwerd, Tobias; Krause, Freia; Twigg, Stephen R. F.; Aschenbrenner, Dominik; Chen, Yin-Huai; Borgmeyer, Uwe; Müller, Miryam; Manrique, Santiago; Schumacher, Neele; Wall, Steven A.; Jung, Jonathan; Damm, Timo; Glueer, Claus-Christian; Scheller, Jürgen; Rose-John, Stefan; Jones, E. Yvonne; Laurence, Arian; Wilkie, Andrew O. M.; Schmidt-Arras, Dirk und Uhlig, Holm H.
(2020):
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.
In: Bone Research, Bd. 8, Nr. 1, 24
Shahin, Tala; Aschenbrenner, Dominik; Cagdas, Deniz; Bal, Sevgi Koestel; Conde, Cecilia Dominguez; Garncarz, Wojciech; Medgyesi, David; Schwerd, Tobias; Karaatmaca, Betul; Cetinkaya, Pinar Gur; Esenboga, Saliha; Twigg, Stephen R. F.; Cant, Andrew; Wilkie, Andrew O. M.; Tezcan, Ilhan; Uhlig, Holm H. und Boztug, Kaan
(2019):
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
In: Haematologica, Bd. 104, Nr. 3: S. 609-621
Kotlarz, Daniel; Marquardt, Benjamin; Baroy, Tuva; Lee, Way S.; Konnikova, Liza; Hollizeck, Sebastian; Magg, Thomas; Lehle, Anna S.; Walz, Christoph; Borggraefe, Ingo; Hauck, Fabian; Bufler, Philip; Conca, Raffaele; Wall, Sarah M.; Schumacher, Eva M.; Misceo, Doriana; Frengen, Eirik; Bentsen, Beint S.; Uhlig, Holm H.; Hopfner, Karl-Peter; Muise, Aleixo M.; Snapper, Scott B.; Stromme, Petter und Klein, Christoph
(2018):
Human TGF-beta 1 deficiency causes severe inflammatory bowel disease and encephalopathy.
In: Nature Genetics, Bd. 50, Nr. 3: S. 344-348
Schwerd, Tobias; Pandey, Sumeet; Yang, Huei-Ting; Bagola, Katrin; Jameson, Elisabeth; Jung, Jonathan; Lachmann, Robin H.; Shah, Neil; Patel, Smita Y.; Booth, Claire; Runz, Heiko; Dueker, Gesche; Bettels, Ruth; Rohrbach, Marianne; Kugathasan, Subra; Chapel, Helen; Keshav, Satish; Elkadri, Abdul; Platt, Nick; Muise, Alexio M.; Koletzko, Sibylle; Xavier, Ramnik J.; Marquardt, Thorsten; Powrie, Fiona; Wraith, James E.; Gyrd-Hansen, Mads; Platt, Frances M. und Uhlig, Holm H.
(2017):
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
In: Gut, Bd. 66, Nr. 6: S. 1060-1073
[PDF, 6MB]
Schwerd, Tobias; Twigg, Stephen R. F.; Aschenbrenner, Dominik; Manrique, Santiago; Miller, Kerry A.; Taylor, Indira B.; Capitani, Melania; McGowan, Simon J.; Sweeney, Elizabeth; Weber, Astrid; Chen, Liye; Bowness, Paul; Riordan, Andrew; Cant, Andrew; Freeman, Alexandra F.; Milner, Joshua D.; Holland, Steven M.; Frede, Natalie; Müller, Miryam; Schmidt-Arras, Dirk; Grimbacher, Bodo; Wall, Steven A.; Jones, E. Yvonne; Wilkie, Andrew O. M. und Uhlig, Holm H.
(2017):
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
In: Journal of Experimental Medicine, Bd. 214, Nr. 9: S. 2547-2562
Shouval, Dror S.; Konnikova, Liza; Griffith, Alexandra E.; Wall, Sarah M.; Biswas, Amlan; Werner, Lael; Nunberg, Moran; Kammermeier, Jochen; Goettel, Jeremy A.; Anand, Rajsavi; Chen, Hannah; Weiss, Batia; Li, Jian; Loizides, Anthony; Yerushalmi, Baruch; Yanagi, Tadahiro; Beier, Rita; Conklin, Laurie S.; Ebens, Christen L.; Santos, Fernanda G. M. S.; Sherlock, Mary; Goldsmith, Jeffery D.; Kotlarz, Daniel; Glover, Sarah C.; Shah, Neil; Bousvaros, Athos; Uhlig, Holm H.; Muise, Aleixo M.; Klein, Christoph und Snapper, Scott B.
(2017):
Enhanced T(H)17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.
In: Inflammatory Bowel Diseases, Bd. 23, Nr. 11: S. 1950-1961
Schwerd, Tobias; Frivolt, Klara; Clavel, Thomas; Lagkouvardos, Ilias; Katona, Gabor; Mayr, Doris; Uhlig, Holm H.; Haller, Dirk; Koletzko, Sibylle und Bufler, Philip
(2016):
Exclusive enteral nutrition in active pediatric Crohn disease: Effects on intestinal microbiota and immune regulation.
In: Journal of Allergy and Clinical Immunology, Bd. 138, Nr. 2: S. 592-596
Li, Qi; Lee, Cheng Hiang; Peters, Lauren A.; Mastropaolo, Lucas A.; Thoeni, Cornelia; Elkadri, Abdul; Schwerd, Tobias; Zhu, Jun; Zhang, Bin; Zhao, Yongzhong; Hao, Ke; Dinarzo, Antonio; Hoffman, Gabriel; Kidd, Brian A.; Murchie, Ryan; Al Adham, Ziad; Guo, Conghui; Kotlarz, Daniel; Cutz, Ernest; Walters, Thomas D.; Shouval, Dror S.; Curran, Mark; Dobrin, Radu; Brodmerkel, Carrie; Snapper, Scott B.; Klein, Christoph; Brumell, John H.; Hu, Mingjing; Nanan, Ralph; Snanter-Nanan, Brigitte; Wong, Melanie; Le Deist, Francoise; Haddad, Elie; Roifman, Chaim M.; Deslandres, Colette; Griffiths, Anne M.; Gaskin, Kevin J.; Uhlig, Holm H.; Schadt, Eric E. und Muise, Aleixo M.
(2016):
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
In: Gastroenterology, Bd. 150, Nr. 5: S. 1196-1207