Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease

Background & Aims Severe forms of inflammatory bowel disease (IBD) that develop in very young children can be caused by variants in a single gene. We performed whole-exome sequence (WES) analysis to identify genetic factors that might cause granulomatous colitis and severe perianal disease, with...

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Veröffentlicht in:	Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 2016-05, Vol.150 (5), p.1196-1207
Hauptverfasser:	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, Muise, Aleixo M
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Antiviral and Antibacterial Networks Australia Cells, Cultured Computational Biology Consanguinity Crohn Disease - diagnosis Crohn Disease - genetics Crohn Disease - metabolism Crohn Disease - therapy Databases, Genetic England Exome Female Gastroenterology and Hepatology Gene Expression Profiling - methods Gene Regulatory Networks Genetic Association Studies Genetic Predisposition to Disease Genetic Variation Germany Homozygote Humans Infant, Newborn Minor Histocompatibility Antigens - genetics Minor Histocompatibility Antigens - metabolism NF-kB Nod2 Signaling Adaptor Protein - metabolism Ontario Pedigree Phenotype Protein Interaction Maps Repressor Proteins - genetics Repressor Proteins - metabolism Severity of Illness Index Signal Transduction Transfection Tripartite Motif Proteins - genetics Tripartite Motif Proteins - metabolism VEOIBD
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