{"id":"W3033380374","doi":"10.1172/jci134965","title":"PRICKLE3 linked to ATPase biogenesis manifested Leber’s hereditary optic neuropathy","year":2020,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Key Research and Development Program of China; Zhejiang Provincial Program for the Cultivation of High-Level Innovative Health Talents; Institute of Genetics; National Natural Science Foundation of China; Zhejiang University; Cincinnati Children's Hospital Medical Center","keywords":"Mutation; Mitochondrial DNA; Optic neuropathy; Biology; Mitochondrion; Leber's hereditary optic neuropathy; Genetics; Molecular biology; Mitochondrial biogenesis; Mitochondrial disease; Phenotype; Gene; Optic nerve","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":[0.0006229784,0.0001280399,0.0003039311,0.00005180651,0.00004169565,0.00002041743,0.0001991373,0.0002284823,0.00004723437],"category_scores_gemma":[0.003858384,0.0001119742,0.0002323826,0.0001795788,0.00007799256,0.00001044504,0.00006674849,0.0002514272,0.00007676524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006107167,"about_ca_system_score_gemma":0.0001885251,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002947739,"about_ca_topic_score_gemma":0.000003274008,"domain_scores_codex":[0.997942,0.0003940112,0.00107871,0.0002565377,0.0001913904,0.0001374063],"domain_scores_gemma":[0.9983808,0.00008964883,0.0004940996,0.0001744587,0.0002862728,0.0005747497],"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":[0.001238274,0.0001166228,0.0231824,0.00003259125,0.00009737421,0.0002529155,0.000141455,0.0006416307,0.9161354,0.00008731507,0.05439356,0.003680457],"study_design_scores_gemma":[0.01098659,0.03113889,0.3051585,0.0002181667,0.0007164329,0.001860269,0.0003951399,0.002363791,0.2147146,0.001063366,0.4297959,0.001588331],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857771,0.0001300774,0.003912156,0.00808619,0.001790269,0.0001459773,0.000007820646,0.00001075975,0.0001396422],"genre_scores_gemma":[0.95937,0.000112175,0.01322558,0.02036887,0.006650081,0.000003765165,0.00005105371,0.00002986094,0.0001886143],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7014208,"threshold_uncertainty_score":0.4619124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.080816431606739,"score_gpt":0.335098876953916,"score_spread":0.254282445347177,"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."}}