{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000282039,0.0001404322,0.0001270803,0.00005185135,0.0002211595,0.00005563835,0.0002714738,0.00009671476,0.00006242363],"category_scores_gemma":[0.0001562026,0.0001208478,0.0001174333,0.0002506208,0.00007688217,0.000009770431,0.0001328234,0.0001696758,0.00002014241],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002955239,"about_ca_system_score_gemma":0.0002138066,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009510239,"about_ca_topic_score_gemma":0.00009336806,"domain_scores_codex":[0.9987347,0.0004278112,0.0001884245,0.0002286248,0.0001944525,0.000226041],"domain_scores_gemma":[0.9991533,0.00004159003,0.00007032678,0.0005871946,0.00006949688,0.00007804785],"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":[0.00009239544,0.001224883,0.02414173,0.00004751837,0.0001186344,0.0007527139,0.002379854,0.0003137092,0.9632482,0.0001989393,0.000619266,0.006862171],"study_design_scores_gemma":[0.002430865,0.0003180452,0.5246767,0.00009122628,0.0001470791,0.001179862,0.007203693,0.0000669125,0.4435376,0.0003156716,0.01932052,0.0007118726],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995057,0.002490505,0.0001017626,0.0002261616,0.0001344082,0.00021077,0.00005099296,0.00001163054,0.001716794],"genre_scores_gemma":[0.9983751,0.0001318245,0.0001067793,0.000329841,0.00004028413,0.00004701432,0.0005541914,0.0000139544,0.0004009736],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5197106,"threshold_uncertainty_score":0.4928031,"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."}}