{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005774584,0.00008695496,0.0002341906,0.00006404558,0.00001050713,0.000003915652,0.00007893447,0.0001529183,0.0000185418],"category_scores_gemma":[0.0005267257,0.00007737574,0.00008692974,0.00006913177,0.0002160681,0.00001302327,0.0000125849,0.0001303049,5.857054e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006229086,"about_ca_system_score_gemma":0.0001493763,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005861905,"about_ca_topic_score_gemma":0.0002297352,"domain_scores_codex":[0.9985989,0.0001397167,0.0009117325,0.000139466,0.0001179291,0.00009230944],"domain_scores_gemma":[0.9992862,0.00002489354,0.0003629752,0.00008226848,0.0001080384,0.0001355808],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002924069,0.0001568503,0.5064794,0.00002615468,0.00002339494,0.000005662474,0.00026065,0.00000545354,0.4924116,0.000008792217,0.00003857202,0.0002910071],"study_design_scores_gemma":[0.0009957134,0.0005230991,0.7091135,0.00009069336,0.00003455786,0.000003070713,0.0001325113,0.00001267481,0.2885371,0.0003732032,0.0001052335,0.00007861872],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993147,0.000255486,0.00006544901,0.00005023631,0.00009044828,0.0001517721,0.00001009827,0.000001171118,0.00006059612],"genre_scores_gemma":[0.9983207,0.0002478323,0.001195121,0.00008876323,0.00009321395,0.000004461053,0.00001457972,0.000008011039,0.00002731391],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2038745,"threshold_uncertainty_score":0.3155291,"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."}}