{"id":"W2562169713","doi":"10.1074/jbc.m116.749374","title":"Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation","year":2017,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Genetics","funders":"National Institute on Deafness and Other Communication Disorders; National Institutes of Health; National Natural Science Foundation of China","keywords":"Mutation; Mutant; Biology; Genetics; Transfer RNA; Mitochondrial DNA; Mitochondrion; Point mutation; Methyltransferase; Molecular biology; Allele; Gene; RNA; Methylation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009121071,0.000297643,0.0001596295,0.0001083584,0.0001257046,0.0001268662,0.0002992002,0.0005462049,0.001223058],"category_scores_gemma":[0.0002378719,0.0001132348,0.0003551175,0.00009174176,0.000252664,0.00009690505,0.0002109589,0.0003001799,0.0003856411],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001886119,"about_ca_system_score_gemma":0.0001787997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009836194,"about_ca_topic_score_gemma":0.000757088,"domain_scores_codex":[0.9999303,0.0000129065,0.000006889976,0.00001599252,0.0000230873,0.00001075969],"domain_scores_gemma":[0.9997925,0.00003036918,0.0001072664,0.00001339015,0.00001403824,0.0000423564],"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":[0.0001044128,0.00003010304,0.0009489527,0.00003351515,0.0000147025,0.0007013713,0.00001420922,0.0003829732,0.9967073,0.000248533,0.00004241952,0.0007714126],"study_design_scores_gemma":[0.000110438,0.001218597,0.02699616,0.00003674163,0.0001145423,0.005090369,0.0001076836,0.0228063,0.9385366,0.0006266706,0.004298657,0.0000571629],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971167,0.0002078258,0.001926493,0.00005649677,0.00003161873,0.00001188238,0.00009763452,0.00005839789,0.000492968],"genre_scores_gemma":[0.9975525,0.00009054415,0.001684669,0.00003309424,0.000005415061,0.00000713454,0.0001286621,0.00001324375,0.0004846902],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001223058,"threshold_uncertainty_score":0.004091561,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06035576125608936,"score_gpt":0.3280117731152237,"score_spread":0.2676560118591343,"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."}}