{"id":"W2077822383","doi":"10.1073/pnas.0805291105","title":"A <i>Drosophila</i> model for Angelman syndrome","year":2008,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":102,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; Howard Hughes Medical Institute","keywords":"UBE3A; Angelman syndrome; Mushroom bodies; Ubiquitin ligase; Biology; Ubiquitin; Genetics; Loss function; Ataxia; Neurodevelopmental disorder; Missense mutation; Null allele; Drosophila melanogaster; Drosophila (subgenus); Mutation; Mutant; Cell biology; Neuroscience; Gene; Phenotype","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":[0.0003613488,0.00006238765,0.00008750391,0.0000387453,0.0001550161,0.000004990255,0.0004373519,0.00006294475,0.000001114569],"category_scores_gemma":[0.0001779394,0.00004478382,0.00008354621,0.0001522988,0.0003785103,0.000009428074,0.0001170978,0.00003756489,2.394022e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004349006,"about_ca_system_score_gemma":0.00002903018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":8.376177e-7,"about_ca_topic_score_gemma":1.432848e-8,"domain_scores_codex":[0.999183,0.000001367641,0.0001756255,0.0001844689,0.0003365921,0.0001189339],"domain_scores_gemma":[0.9996299,0.00001000942,0.0001768733,0.000007272616,0.0001538788,0.00002208839],"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":[0.000003591953,0.00002165242,0.004328578,0.00002987355,0.00001001062,1.418913e-9,0.0000424412,0.0005255832,0.99178,0.002323583,0.0008664283,0.00006824739],"study_design_scores_gemma":[0.0003935149,0.0002090353,0.09764868,0.00004435529,0.00001322845,0.0002128287,0.0000508009,0.0193483,0.8604662,0.02080143,0.0006475118,0.0001640731],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975052,0.0001337501,0.00002283288,0.0006794346,0.000009604567,0.000138048,0.00001318887,0.000002474275,0.001495408],"genre_scores_gemma":[0.9937589,0.0000414833,0.005507774,0.0002255066,0.00004082634,0.00001291146,2.33612e-7,0.000004027651,0.0004083466],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1313138,"threshold_uncertainty_score":0.1826231,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04948552510686755,"score_gpt":0.2889614007583866,"score_spread":0.239475875651519,"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."}}