{"id":"W1491176685","doi":"10.1016/j.jcmgh.2015.06.005","title":"Defects in Nicotinamide-adenine Dinucleotide Phosphate Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease","year":2015,"lang":"en","type":"article","venue":"Cellular and Molecular Gastroenterology and Hepatology","topic":"Neutrophil, Myeloperoxidase and Oxidative Mechanisms","field":"Immunology and Microbiology","cited_by":152,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; Crohn's and Colitis Canada; Hospital for Sick Children; European Commission; Agency for Healthcare Research and Quality; National Institutes of Health; Science Foundation Ireland; Crohn's and Colitis Foundation of America; Canadian Association of Gastroenterology; Canadian Institutes of Health Research; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"NOX1; Nicotinamide adenine dinucleotide phosphate; Biology; Inflammatory bowel disease; Missense mutation; Exome sequencing; NADPH oxidase; Molecular biology; Microbiology; Gene; Genetics; Mutation; Reactive oxygen species; Oxidase test; Biochemistry; Enzyme; Medicine; Disease","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002891645,0.0004466899,0.0002434574,0.0004738963,0.0002780721,0.0002082074,0.0003087399,0.0004223364,0.0015452],"category_scores_gemma":[0.0005079965,0.0001103478,0.0002766388,0.0002959659,0.0002794981,0.0001111378,0.0002534614,0.0002804927,0.0001521902],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001999422,"about_ca_system_score_gemma":0.0001166762,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007912679,"about_ca_topic_score_gemma":0.0008509585,"domain_scores_codex":[0.9998197,0.00003792293,0.00001766645,0.00005350408,0.00004341649,0.00002784669],"domain_scores_gemma":[0.9996945,0.00007379822,0.0001357287,0.00001280402,0.00002609667,0.00005708077],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001837077,0.0002251452,0.5546963,0.0003919468,0.0002667315,0.04081176,0.0006709923,0.0009481826,0.3468379,0.001080074,0.0009644277,0.0512695],"study_design_scores_gemma":[0.00007459722,0.0004286057,0.8379542,0.0001315007,0.0003038335,0.1033914,0.0002857799,0.001564332,0.04802078,0.0006779933,0.00714005,0.00002693672],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958581,0.001996843,0.001208429,0.00007293304,0.00001840133,0.000008222609,0.000178357,0.00003290969,0.0006257137],"genre_scores_gemma":[0.9981103,0.0003921321,0.001004817,0.00003568731,0.000009996947,0.000004952266,0.0001310708,0.000006138499,0.0003048824],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0015452,"threshold_uncertainty_score":0.005169153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007934672383592248,"score_gpt":0.2008521521033273,"score_spread":0.1929174797197351,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}