NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease

Autor: Schwerd, T, Bryant, RV, Pandey, S, Capitani, M, Meran, L, Cazier, J-B, Jung, J, Mondal, K, Parkes, M, Mathew, CG, Fiedler, K, McCarthy, DJ, WGS500 Consortium, Oxford IBD cohort study investigators, COLORS in IBD group investigators, UK IBD Genetics Consortium, Sullivan, PB, Rodrigues, A, Travis, SPL, Moore, C, Sambrook, J, Ouwehand, WH, Roberts, DJ, Danesh, J, INTERVAL Study, Russell, RK, Wilson, DC, Kelsen, JR, Cornall, R, Denson, LA, Kugathasan, S, Knaus, UG, Serra, EG, Anderson, CA, Duerr, RH, McGovern, D Pb, Cho, J, Powrie, F, Li, V Sw, Muise, AM, Uhlig, HH

Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified in a pa

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NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.

Autor: Schwerd T; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.; Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany., Bryant RV; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.; University of Adelaide, Adelaide, South Australia, Australia., Pandey S; Translational Gastroenterology Unit, University of Oxford, Oxford, UK., Capitani M; Translational Gastroenterology Unit, University of Oxford, Oxford, UK., Meran L; The Francis Crick Institute, London, UK., Cazier JB; The Wellcome Trust Centre for Human Genetics, Oxford, UK., Jung J; Translational Gastroenterology Unit, University of Oxford, Oxford, UK., Mondal K; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University, Atlanta, Georgia, USA., Parkes M; Inflammatory Bowel Disease Research Group, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK., Mathew CG; Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital London, London, UK., Fiedler K; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., McCarthy DJ; The Wellcome Trust Centre for Human Genetics, Oxford, UK., Sullivan PB; Department of Paediatrics, University of Oxford, Oxford, UK., Rodrigues A; Department of Paediatrics, University of Oxford, Oxford, UK., Travis SPL; Translational Gastroenterology Unit, University of Oxford, Oxford, UK., Moore C; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; INTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Sambrook J; INTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK., Ouwehand WH; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge, UK.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK., Roberts DJ; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant-Oxford Centre, Oxford, UK.; Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK., Danesh J; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; INTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK., Russell RK; Department of Paediatric Gastroenterology, The Royal Hospital for Children, Glasgow, UK., Wilson DC; Royal Hospital for Sick Children, Edinburgh, UK.; Child Life and Health, University of Edinburgh, Edinburgh, UK., Kelsen JR; Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Cornall R; Centre for Cellular and Molecular Physiology, University of Oxford, Oxford, UK., Denson LA; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Kugathasan S; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University, Atlanta, Georgia, USA., Knaus UG; Conway Institute, School of Medicine, University College Dublin, Dublin, Ireland.; National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland., Serra EG; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK., Anderson CA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK., Duerr RH; Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA., McGovern DP; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA., Cho J; Icahn School of Medicine, Mount Sinai Hospital, New York, New York, USA., Powrie F; Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK., Li VS; The Francis Crick Institute, London, UK., Muise AM; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Uhlig HH; Translational Gastroenterology Unit, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK.

Publikováno v: Mucosal immunology [Mucosal Immunol] 2018 Mar; Vol. 11 (2), pp. 562-574. Date of Electronic Publication: 2017 Nov 01.