{"id":"W4210907652","doi":"10.1371/journal.pgen.1009644","title":"Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome","year":2022,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Canadian Institutes of Health Research; National Institutes of Health; Natural Sciences and Engineering Research Council of Canada; McGill University; Institute of Museum and Library Services","keywords":"Biology; Promoter; Genetics; RNA polymerase II; RNA polymerase I; Enhancer; RNA polymerase III; Ribosomal RNA; Gene; RNA polymerase; RNA; Molecular biology; Transcription factor; Gene expression","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":[],"consensus_categories":[],"category_scores_codex":[0.0001171425,0.0001147507,0.0001103715,0.00004381994,0.0001255989,0.00003882511,0.0001160284,0.00007096296,0.0000421314],"category_scores_gemma":[0.000009309387,0.00009982644,0.00001734911,0.0001057523,0.00004714106,0.00000518192,0.0000933687,0.0001146468,8.508711e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001343119,"about_ca_system_score_gemma":0.00002524617,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007433257,"about_ca_topic_score_gemma":0.0000122483,"domain_scores_codex":[0.9990878,0.0001390357,0.0001939897,0.0003100951,0.0001278232,0.0001412561],"domain_scores_gemma":[0.9996651,0.00001258475,0.00005884972,0.0002012631,0.00002780707,0.0000343485],"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":[0.00005155846,0.0001430361,0.03228497,0.00002826071,0.00001500655,0.000006085676,0.0007918358,0.000005921608,0.960089,8.341879e-7,0.001196187,0.00538734],"study_design_scores_gemma":[0.002770814,0.001317383,0.05900515,0.00004773066,0.00006960359,0.00008600859,0.0003621098,0.004979218,0.9228564,0.0001739206,0.007827437,0.000504226],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979903,0.000652118,0.00002449018,0.0006253297,0.00002314467,0.0004187656,0.0002114969,0.000003795642,0.00005056691],"genre_scores_gemma":[0.9985759,0.0002873898,0.0000915485,0.0005715981,0.00003283675,0.0001446879,0.0001921904,0.00001553367,0.00008834813],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03723257,"threshold_uncertainty_score":0.4070804,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02351173914986226,"score_gpt":0.2417200682179749,"score_spread":0.2182083290681126,"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."}}