{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001763613,0.0007229352,0.0003433614,0.0004349621,0.0002815567,0.0004091281,0.0004995115,0.0004314861,0.001682617],"category_scores_gemma":[0.0002034144,0.0003841641,0.0003072895,0.0001985546,0.0005137784,0.0001504001,0.0003997055,0.000521732,0.001208475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004477478,"about_ca_system_score_gemma":0.0001947877,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009281134,"about_ca_topic_score_gemma":0.001573998,"domain_scores_codex":[0.9997454,0.00002874882,0.00003340647,0.00007176474,0.00007026262,0.00005034778],"domain_scores_gemma":[0.9996176,0.00005830861,0.0001537249,0.00003269825,0.00001416378,0.0001234466],"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":[0.00006935366,0.00001042337,0.0002565877,0.00001061159,0.000004855888,0.0001376807,0.000009147384,0.000067259,0.9990302,0.0000543187,0.00001878547,0.0003307294],"study_design_scores_gemma":[0.00003326481,0.000131242,0.01331189,0.000009522458,0.00003028142,0.001862753,0.00006405413,0.002724195,0.9798148,0.0001077433,0.001896255,0.00001397643],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974664,0.0004407777,0.001200418,0.00004777049,0.0000156225,0.000005076558,0.0002514438,0.00009582938,0.0004767203],"genre_scores_gemma":[0.9976313,0.0001540757,0.0006825687,0.00002283939,0.000006013462,0.00001013989,0.0003680023,0.00005561811,0.001069325],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001682617,"threshold_uncertainty_score":0.005628884,"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."}}