{"id":"W1834063458","doi":"10.1136/jmedgenet-2015-103250","title":"MKS1 regulates ciliary INPP5E levels in Joubert syndrome","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; London Health Sciences Centre; Western University","funders":"National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; Medical Research Council; ZonMw; University of Washington; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Howard Hughes Medical Institute","keywords":"Joubert syndrome; Biology; Ciliopathy; Cilium; Mutation; Genetics; Phenotype; Cell biology; 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":[0.0001851182,0.0004574459,0.0003641928,0.0005193801,0.0003895286,0.0003783476,0.0002982677,0.0004959431,0.001659778],"category_scores_gemma":[0.0004090754,0.0002288992,0.0002789954,0.0001614645,0.0004275915,0.0001474329,0.0005945907,0.0003916526,0.0004444704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006079824,"about_ca_system_score_gemma":0.0002700821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001758314,"about_ca_topic_score_gemma":0.002596532,"domain_scores_codex":[0.9997872,0.00002389728,0.00003094031,0.00004255238,0.00008173715,0.00003365345],"domain_scores_gemma":[0.9996423,0.00004892212,0.0001575699,0.00001536367,0.00004647548,0.00008938661],"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":[0.0004336137,0.00003880158,0.01274164,0.0001168091,0.00002095339,0.0009970613,0.0001624626,0.0001827094,0.982876,0.0001066308,0.0002501464,0.002073138],"study_design_scores_gemma":[0.00008919372,0.0004391395,0.4058077,0.00006727438,0.0001117345,0.005845256,0.0004162196,0.002454359,0.579884,0.0002546278,0.004596666,0.00003389084],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974231,0.00117237,0.0004796864,0.00007226812,0.00001655944,0.000007698888,0.0002564269,0.0000361246,0.0005359179],"genre_scores_gemma":[0.9981987,0.0004164698,0.0005582194,0.00003957268,0.000005594174,0.00001441193,0.0002557321,0.00002081322,0.0004906649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001758314,"threshold_uncertainty_score":0.00555253,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02795968626850527,"score_gpt":0.2944638911466375,"score_spread":0.2665042048781323,"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."}}