{"id":"W2022040013","doi":"10.1073/pnas.0807027105","title":"Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics","year":2008,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":664,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Eye Institute; National Heart, Lung, and Blood Institute","keywords":"RPE65; Cis-trans-Isomerases; Visual phototransduction; Retinoid; Genetic enhancement; Biology; Retinal; Retinal degeneration; Ophthalmology; Internal medicine; Gene; Endocrinology; Medicine; Chemistry; Isomerase; Biochemistry; Retinoic acid; Peptidylprolyl isomerase","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":[0.0004001992,0.00008234067,0.00009222845,0.00004614876,0.0002435823,0.000007780497,0.0005001853,0.00005750792,0.000002589405],"category_scores_gemma":[0.0001228429,0.00004300284,0.00005748732,0.0002457852,0.0008426071,0.00001666017,0.00006320628,0.00004843932,9.154229e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004709889,"about_ca_system_score_gemma":0.00003135787,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003436991,"about_ca_topic_score_gemma":5.604721e-8,"domain_scores_codex":[0.9990082,0.000004486342,0.0002043902,0.0001837178,0.0004848437,0.0001143013],"domain_scores_gemma":[0.9993801,0.00002409344,0.0003022757,0.0000129453,0.0002644506,0.00001620494],"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":[0.00006695414,0.00006651113,0.005532443,0.00001624303,0.000008631903,2.048535e-9,0.00009319029,0.00007612901,0.9929783,0.0006281764,0.0003460071,0.0001874264],"study_design_scores_gemma":[0.0002860034,0.0003642731,0.0746134,0.00001867491,0.00000402947,0.000005439148,0.0001025019,0.00004590593,0.9217383,0.002545752,0.0002130245,0.00006274188],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967587,0.0003546398,0.000005575155,0.001088832,0.000006593269,0.0002179801,0.000007772825,0.000002241896,0.001557685],"genre_scores_gemma":[0.997901,0.0002263813,0.001549742,0.0001321944,0.00003235596,0.00001251732,8.907435e-7,0.000004316576,0.0001405929],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07124003,"threshold_uncertainty_score":0.3104621,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02218262974502444,"score_gpt":0.285830316987306,"score_spread":0.2636476872422816,"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."}}