{"id":"W3200094364","doi":"10.1016/j.immuni.2021.08.022","title":"Mutations in the adenosine deaminase ADAR1 that prevent endogenous Z-RNA binding induce Aicardi-Goutières-syndrome-like encephalopathy","year":2021,"lang":"en","type":"article","venue":"Immunity","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":111,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Institute of Genetics; Osaka Medical Research Foundation for Intractable Diseases; Astellas Foundation for Research on Metabolic Disorders; Ministry of Education, Culture, Sports, Science and Technology; Astellas Pharma; Japan Society for the Promotion of Science; Mochida Memorial Foundation for Medical and Pharmaceutical Research; Tokyo Biochemical Research Foundation; Novartis; Uehara Memorial Foundation; Japan Agency for Medical Research and Development; Colorado State University; Takeda Science Foundation; Naito Foundation; Moritani Scholarship Foundation","keywords":"RNA editing; ADAR; Biology; RNA; Adenosine deaminase; RNA-binding protein; Point mutation; Molecular biology; Mutation; Adenosine; Gene; Biochemistry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001406962,0.0005596947,0.0003627751,0.0005021383,0.0002624161,0.0002336339,0.0003475961,0.0008570832,0.002506144],"category_scores_gemma":[0.0005941137,0.0002485695,0.0002555455,0.0002283581,0.0006811042,0.0001336563,0.0003354024,0.0006906139,0.0006387423],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003541064,"about_ca_system_score_gemma":0.0001932364,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007822124,"about_ca_topic_score_gemma":0.000898488,"domain_scores_codex":[0.9998488,0.00004124576,0.00002262766,0.00003025768,0.00003033506,0.00002662222],"domain_scores_gemma":[0.9996037,0.0001539396,0.0001180207,0.00003347416,0.0000163145,0.00007459808],"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":[0.000711626,0.0001640638,0.001763819,0.00006737977,0.00005900965,0.006654376,0.00009116204,0.0009552966,0.9844831,0.0009799011,0.0003252655,0.003745013],"study_design_scores_gemma":[0.0008371306,0.001301228,0.0331497,0.00004276782,0.0001813315,0.02770337,0.000190026,0.01106717,0.9175321,0.001060354,0.00686914,0.00006554998],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954099,0.0002364451,0.002389415,0.0001615361,0.00005290677,0.00004054104,0.0002538636,0.0002179959,0.001237249],"genre_scores_gemma":[0.9979469,0.0001081188,0.0008615023,0.00005197924,0.0000125382,0.00001894134,0.0001371024,0.00004955455,0.0008134182],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002506144,"threshold_uncertainty_score":0.00838387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03110190371278552,"score_gpt":0.2626990937668258,"score_spread":0.2315971900540403,"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."}}