{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004035094,0.0003809982,0.0005809836,0.0003470132,0.0001106616,0.00002058584,0.0001500076,0.0003157494,0.00002227344],"category_scores_gemma":[0.00007418402,0.000378103,0.0000617483,0.00008483591,0.0006652432,0.0001337338,0.0003070319,0.0005279902,0.00002346675],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003142801,"about_ca_system_score_gemma":0.00006137634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001193868,"about_ca_topic_score_gemma":0.0003850211,"domain_scores_codex":[0.9972806,0.000808846,0.0004387065,0.0007058549,0.00004525409,0.0007207331],"domain_scores_gemma":[0.9992875,0.00007065065,0.0001194626,0.0002691201,0.00004556106,0.0002076711],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001783068,0.0001264596,0.8086028,0.00005177735,0.00006583143,0.002135326,0.0003027484,0.000007586862,0.1857121,0.0009796448,0.00004658712,0.000186135],"study_design_scores_gemma":[0.01758571,0.002412837,0.8096523,0.0001586913,0.0002541554,0.001329838,0.0004300917,0.0002416228,0.1619166,0.003898857,0.001281422,0.000837911],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9860842,0.01230707,0.0004340352,0.0005068429,0.000244916,0.0003493177,0.00002239705,0.00003338985,0.00001784069],"genre_scores_gemma":[0.9978052,0.0007502401,0.0001043957,0.001091468,0.0000122829,0.0000544238,0.00009030817,0.00003127661,0.00006035552],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02379548,"threshold_uncertainty_score":0.9998671,"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."}}