{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001883372,0.0005921027,0.0003281613,0.0006117646,0.0004501428,0.0002130835,0.0002145188,0.0008159326,0.003036947],"category_scores_gemma":[0.0005434479,0.0001461912,0.0003273218,0.0002853435,0.000352983,0.0001083253,0.0003746451,0.0003437731,0.000527169],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001138925,"about_ca_system_score_gemma":0.0001460052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003568431,"about_ca_topic_score_gemma":0.0003886262,"domain_scores_codex":[0.9997393,0.00007410714,0.00003401921,0.00006350493,0.00005220183,0.00003689202],"domain_scores_gemma":[0.999564,0.0001009032,0.000166642,0.0000317786,0.00002706977,0.0001095968],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001500709,0.0002747129,0.05017905,0.0001155098,0.000142054,0.0351426,0.0003803614,0.0003400052,0.9032278,0.0008218669,0.0005989313,0.007276413],"study_design_scores_gemma":[0.000318611,0.001934008,0.4725941,0.0001437342,0.0005569423,0.2137622,0.000803129,0.007529611,0.2876098,0.002966924,0.01165548,0.0001254711],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978059,0.0003120003,0.0008198632,0.00007886416,0.00003077134,0.00001691023,0.00009482173,0.00005583209,0.0007849315],"genre_scores_gemma":[0.9991239,0.000078703,0.0003401549,0.00004457959,0.0000224744,0.000007414939,0.00005891553,0.00001619107,0.0003076124],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003036947,"threshold_uncertainty_score":0.01015961,"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."}}