{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008676615,0.0005272585,0.0002267392,0.000264852,0.0003159627,0.0001460613,0.0001501065,0.0004194021,0.001245455],"category_scores_gemma":[0.000153928,0.0001258472,0.0002662293,0.0001588186,0.0003061815,0.0001364593,0.0003153792,0.0003649806,0.0002032752],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002458917,"about_ca_system_score_gemma":0.0002044934,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001193014,"about_ca_topic_score_gemma":0.00134073,"domain_scores_codex":[0.9999164,0.000008636071,0.00001077913,0.0000324655,0.00001501515,0.00001676492],"domain_scores_gemma":[0.9999088,0.00001476281,0.00003611372,0.00000731397,0.00000660769,0.00002649529],"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":[0.0003639035,0.00004991496,0.01383349,0.00008975709,0.00004793307,0.02865694,0.0001801921,0.0002312226,0.9522574,0.0004423349,0.0002248914,0.003622026],"study_design_scores_gemma":[0.0001744984,0.0007503342,0.2778254,0.00005434941,0.0003158731,0.1288611,0.000334184,0.005385366,0.5783243,0.001022125,0.006864663,0.00008783543],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981412,0.0001964076,0.0008638499,0.00006074527,0.00002297676,0.00001092527,0.0001278921,0.00004603938,0.0005299977],"genre_scores_gemma":[0.9986019,0.0001206596,0.0004883778,0.00004136064,0.000007428649,0.000006799913,0.000100988,0.000009029985,0.0006235507],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001245455,"threshold_uncertainty_score":0.004166484,"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."}}