A167 UNDERSTANDING THE IMPACT OF DOWNSTREAM OF KINASE 4 (DOK4) DAMAGING GENETIC VARIANTS IN THE PATHOGENESIS OF PEDIATRIC INFLAMMATORY BOWEL DISEASE (IBD).

Autor: Batura, V, Ricciuto, A, Warner, N, Guo, C, Kotlarz, D, Klein, C, Muise, A

Publikováno v: Journal of the Canadian Association of Gastroenterology; 2021 Supplement, Vol. 4, p177-178, 2p

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Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.

Autor: Ghasempour S; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada., Warner N; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada., Guan R; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada., Rodari MM; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France., Ivanochko D; Program in Molecular Medicine, The Hospital for Sick Children Research Institute , Toronto, Canada., Whittaker Hawkins R; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada., Marwaha A; Division of Genetics, Department of Medical Genetics, University of Calgary, Alberta Children's Hospital, Calgary, Canada., Nowak JK; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France., Liang Y; Center for Computational Medicine, Research Institute, Hospital for Sick Children , Toronto, Canada., Mulder DJ; Department of Pediatrics, Gastrointestinal Diseases Research Unit, Queen's University, Kingston, Canada., Stallard L; National Centre for Pediatric Gastroenterology, Children's Health Ireland , Dublin, Ireland., Li M; Center for Computational Medicine, Research Institute, Hospital for Sick Children , Toronto, Canada., Yu DD; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada., Pluthero FG; Department of Biochemistry, University of Toronto, Toronto, Canada., Batura V; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada., Zhao M; Genetics and Genome Biology, Research Institute, Hospital for Sick Children , Toronto, Canada., Siddiqui I; Division of Pathology, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.; Laboratory Medicine and Pathobiology, University of Toronto , Toronto, Canada., Upton JEM; Division of Immunology and Allergy, The Hospital for Sick Children, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada., Hulst JM; Department of Paediatrics, University of Toronto, Toronto, Canada.; Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, Toronto, Canada., Kahr WHA; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada., Mendoza-Londono R; Department of Paediatrics, University of Toronto, Toronto, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Canada., Charbit-Henrion F; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France.; Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital , Paris, France., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Khiat A; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France., Moreira D; Consulta de Imunodeficiências Primárias, Serviço de Pediatria, Centro Hospitalar Vila Nova de Gaia e Espinho , Vila Nova de Gaia, Portugal., Trindade E; Department of Pediatrics, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Centro Hospitalar Universitário de São João, Porto, Portugal., Espinheira MDC; Department of Pediatrics, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Centro Hospitalar Universitário de São João, Porto, Portugal., Pinto Pais I; Department of Pediatrics, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Centro Hospitalar Universitário de São João, Porto, Portugal., Weerts MJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Douben H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Kotlarz D; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; German Center for Child and Adolescent Health, Munich Site , Munich, Germany.; Institute of Translational Genomics, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg, Germany., Snapper SB; Division of Gastroenterology, Hepatology and Nutrition, Boston, Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA, USA., Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; German Center for Child and Adolescent Health, Munich Site , Munich, Germany., Dowling JJ; Genetics and Genome Biology, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada., Julien JP; Program in Molecular Medicine, The Hospital for Sick Children Research Institute , Toronto, Canada., Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Cerf-Bensussan N; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France., Freeman SA; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada., Parlato M; Laboratory of Intestinal Immunity, Université Paris-Cité, Institut Imagine, INSERM U1163 , Paris, France., van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Muise AM; Cell Biology Program, Research Institute, Hospital for Sick Children , Toronto, Canada.; Department of Biochemistry, University of Toronto, Toronto, Canada.; Department of Paediatrics, University of Toronto, Toronto, Canada.; Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, Toronto, Canada.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2024 Dec 02; Vol. 221 (12). Date of Electronic Publication: 2024 Nov 11.