{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001095208,0.0001833116,0.000355627,0.00007331928,0.0001052066,0.00004081761,0.0005937752,0.0005383063,0.00004066302],"category_scores_gemma":[0.004072479,0.0001365851,0.0002093044,0.0001315156,0.0001322541,0.00002330654,0.00004531379,0.000337275,0.000002126382],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005584295,"about_ca_system_score_gemma":0.00006998846,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002275388,"about_ca_topic_score_gemma":0.00001266549,"domain_scores_codex":[0.9981552,0.0002467434,0.0008273371,0.0003366506,0.0001971497,0.0002368899],"domain_scores_gemma":[0.998491,0.0001958375,0.0006311544,0.0003620876,0.0002393796,0.00008055309],"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":[0.001637281,0.0002301534,0.0009598316,0.00003234159,0.00003266182,0.00001252456,0.0003200443,0.0002378266,0.9953673,0.00005412184,0.0001785372,0.0009373034],"study_design_scores_gemma":[0.005355947,0.001572808,0.06822681,0.0001917277,0.00007743457,0.0001410161,0.0007134175,0.0004471517,0.920208,0.00200198,0.0006329239,0.0004307777],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965029,0.0002781945,0.001802566,0.0006612455,0.0002150964,0.0003777593,0.00002337815,0.000004378561,0.0001344769],"genre_scores_gemma":[0.9980599,0.0001927459,0.001249002,0.0001118836,0.0002009405,0.00002492766,0.0001009332,0.00001449783,0.00004520324],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07515936,"threshold_uncertainty_score":0.5569779,"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."}}