{"id":"W4224984642","doi":"10.1172/jci.insight.157418","title":"Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNAPhe promote isolated chronic kidney disease and hyperuricemia","year":2022,"lang":"en","type":"article","venue":"JCI Insight","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Zhejiang University; Institute of Genetics; National Health Commission of the People's Republic of China; Zhejiang Provincial Program for the Cultivation of High-Level Innovative Health Talents; National Natural Science Foundation of China","keywords":"Heteroplasmy; Biology; Mitochondrion; Kidney; Transfer RNA; Mitochondrial DNA; Genetics; RNA; Gene","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":[0.00008874393,0.000214462,0.0002035894,0.0001262258,0.0001962391,0.00003161204,0.0001278871,0.0001250626,0.0002230498],"category_scores_gemma":[0.00007112011,0.0002133641,0.00005580113,0.0001761685,0.00009024481,0.000009042763,0.0002741581,0.0002612217,0.00001252099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004865379,"about_ca_system_score_gemma":0.0001781186,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001603769,"about_ca_topic_score_gemma":0.0000601174,"domain_scores_codex":[0.9985673,0.0001841444,0.0002491557,0.0005852539,0.0001194528,0.0002946556],"domain_scores_gemma":[0.9992931,0.00001350523,0.00007696859,0.0003231872,0.00002368526,0.0002694821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007651723,0.0001265741,0.003306406,0.00005512052,0.00004245617,0.0001082907,0.0002201655,0.00007890029,0.9860289,0.00009622792,0.008203041,0.0009687361],"study_design_scores_gemma":[0.005486487,0.002133999,0.004755932,0.00003800777,0.00008155224,0.0004889899,0.00006017606,0.002807441,0.02044772,0.0002303981,0.9626975,0.0007717921],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940236,0.003347875,0.0001419416,0.0004720802,0.0008181221,0.0004262287,0.00008098586,0.00002432274,0.0006648821],"genre_scores_gemma":[0.9949246,0.0007099604,0.0001803115,0.001164172,0.0002757009,0.0001482025,0.0002982233,0.00003865376,0.002260154],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9655812,"threshold_uncertainty_score":0.8700735,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006534888905553769,"score_gpt":0.2120660323308589,"score_spread":0.2055311434253052,"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."}}