{"id":"W2933308068","doi":"10.1007/s00401-019-01999-w","title":"ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD","year":2019,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":70,"is_retracted":false,"has_abstract":false,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"Harrington Discovery Institute, University Hospitals; National Institute of Neurological Disorders and Stroke; Tau Consortium; National Institutes of Health; Bruno and Ilse Frick Foundation for Research on ALS; Barrow Neurological Foundation; Donald E. and Delia B. Baxter Foundation; Robert Packard Center for ALS Research, Johns Hopkins University; Association for Frontotemporal Degeneration; Southern California Clinical and Translational Science Institute; New York Stem Cell Foundation; Alzheimer's Drug Discovery Foundation; Muscular Dystrophy Association; ALS Association; Keck School of Medicine of USC; Mayo Clinic; Target ALS; Judith and Jean Pape Adams Charitable Foundation; U.S. Department of Defense","keywords":"C9orf72; RNA editing; RNA; Biology; Amyotrophic lateral sclerosis; RNA-binding protein; ADAR; Frontotemporal dementia; Induced pluripotent stem cell; Cell biology; Neuroscience; Genetics; Trinucleotide repeat expansion; Gene; Medicine; Pathology; Embryonic stem cell","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001137044,0.0001125523,0.0001025704,0.00004966508,0.0000489068,0.00002888295,0.00008514,0.0001010171,0.00005824717],"category_scores_gemma":[0.0004693431,0.0001031589,0.00002999217,0.0001131079,0.00004914136,0.00001015281,0.00007154673,0.00006688669,0.00002433217],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005195168,"about_ca_system_score_gemma":0.00002471563,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003548656,"about_ca_topic_score_gemma":0.000008311642,"domain_scores_codex":[0.9991338,0.0001190425,0.0001795938,0.0003217456,0.00008666475,0.0001592092],"domain_scores_gemma":[0.9995618,0.00002953519,0.00007585723,0.0002162932,0.00004245312,0.00007405378],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00003811482,0.00005272456,0.06784548,0.000009164218,0.000002501781,0.00001838577,0.00003394402,0.0001196221,0.9298257,0.00006363173,0.001408383,0.0005823366],"study_design_scores_gemma":[0.001592536,0.0004050987,0.9384484,0.00003133852,0.00001842486,0.00005840306,0.0001489452,0.003166086,0.02892828,0.0001236923,0.02667562,0.0004032168],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952903,0.0001152063,0.0001576907,0.0005334949,0.0001523301,0.0001929087,0.0000133531,0.00002531053,0.003519388],"genre_scores_gemma":[0.9979818,0.00009902946,0.0001182485,0.001002262,0.00008127313,0.00001179175,0.0001721551,0.00001343984,0.0005199512],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9008974,"threshold_uncertainty_score":0.4206697,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0079131552580627,"score_gpt":0.2266763433191828,"score_spread":0.2187631880611202,"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."}}