{"id":"W3022842541","doi":"10.1172/jci45627","title":"Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice","year":2011,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":109,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"National Cancer Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Bundesministerium für Bildung und Forschung; Radboud Universiteit; Eberhard Karls Universität Tübingen; Foundation Fighting Blindness","keywords":"Intraflagellar transport; Cilium; Cell biology; Biology; Retinal degeneration; Motile cilium; Bardet–Biedl syndrome; Opsin; Ciliogenesis; Mutation; Retina; Genetics; Flagellum; Retinal; Neuroscience; Phenotype; Biochemistry; Rhodopsin; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00020703,0.0004576382,0.0002218695,0.000805715,0.000302181,0.000316663,0.0001465077,0.000624329,0.001758713],"category_scores_gemma":[0.0002715468,0.0002581878,0.000258909,0.0001896116,0.0005071892,0.0001944815,0.0003699383,0.0003992295,0.0003239546],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004281583,"about_ca_system_score_gemma":0.0002540292,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009679304,"about_ca_topic_score_gemma":0.00133013,"domain_scores_codex":[0.9997765,0.00003287593,0.00002966784,0.00007549515,0.00005078467,0.00003469802],"domain_scores_gemma":[0.9998921,0.00001652214,0.00004228462,0.0000108839,0.000005536013,0.00003266427],"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":[0.000250924,0.00003518427,0.004228663,0.00006229764,0.00003224887,0.001550157,0.00005749711,0.0001204132,0.9894276,0.0004758357,0.0001365625,0.003622682],"study_design_scores_gemma":[0.0001832385,0.0008778041,0.1737977,0.00006357176,0.0002564506,0.03215757,0.0002057222,0.00400542,0.7785026,0.001083803,0.008825422,0.00004077324],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950033,0.001192302,0.002314765,0.0001516529,0.00001857424,0.00002127505,0.0003113742,0.00014997,0.0008367738],"genre_scores_gemma":[0.9967428,0.0004261995,0.001796033,0.00006555807,0.00000645171,0.00001910188,0.0002255714,0.00002309887,0.0006952448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001758713,"threshold_uncertainty_score":0.005883515,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04728480994124895,"score_gpt":0.3087638510854476,"score_spread":0.2614790411441986,"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."}}