{"id":"W3035828086","doi":"10.1038/s41467-020-16819-z","title":"A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction","year":2020,"lang":"en","type":"article","venue":"Nature Communications","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":95,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of General Medical Sciences; GlaxoSmithKline; Japan Society for the Promotion of Science; Core Research for Evolutional Science and Technology; National Health and Medical Research Council; National Institutes of Health; University of Melbourne; Ministry of Education, Culture, Sports, Science and Technology; Cancer Australia; Diabetes Australia; University of Oxford; Japan Agency for Medical Research and Development; State Government of Victoria; Versus Arthritis; Australian Government; Howard Hughes Medical Institute; Jack Brockhoff Foundation; Marshfield Clinic Research Foundation; Victorian Cancer Agency; Lorenzo and Pamela Galli Charitable Trust; Wellcome Trust; QIMR Berghofer Medical Research Institute; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Medical Research Council","keywords":"Missense mutation; Biology; Inflammation; Compound heterozygosity; Phenotype; Mutation; Cell biology; Genetics; Heterozygote advantage; Immunology; Allele; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001318365,0.0005077955,0.0002425962,0.0003192304,0.0001752691,0.0001704687,0.0002387875,0.0005067902,0.002189414],"category_scores_gemma":[0.0002951752,0.0001343298,0.0001917358,0.0001503559,0.0004026562,0.00009710345,0.0002972749,0.0004361541,0.000301526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002605971,"about_ca_system_score_gemma":0.0001783252,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005663802,"about_ca_topic_score_gemma":0.0007710584,"domain_scores_codex":[0.9998237,0.00002908998,0.00001745148,0.00004129779,0.00005233505,0.00003615514],"domain_scores_gemma":[0.9997448,0.00007457248,0.00007800497,0.00001367748,0.000009133888,0.00007972795],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003725896,0.00008578993,0.004017733,0.00004209361,0.00002453164,0.01297682,0.00006258749,0.000159608,0.9792419,0.0002973067,0.0001719656,0.002547091],"study_design_scores_gemma":[0.0002895175,0.002602135,0.1766989,0.00008287768,0.0001605322,0.1474423,0.000355042,0.003618994,0.6628553,0.0005139933,0.005325287,0.00005515802],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982067,0.0001668903,0.0006604538,0.00006262686,0.00001558866,0.00001207231,0.000163237,0.00005031413,0.0006620357],"genre_scores_gemma":[0.9987827,0.00009775699,0.0003961383,0.00002979271,0.000006503005,0.000007046972,0.0001176075,0.00001584577,0.000546545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002189414,"threshold_uncertainty_score":0.007324338,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02058031993596113,"score_gpt":0.2679702221583466,"score_spread":0.2473899022223855,"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."}}