{"id":"W4378802689","doi":"10.1126/scitranslmed.abo3189","title":"PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production","year":2023,"lang":"en","type":"article","venue":"Science Translational Medicine","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Women and Children’s Health Research Institute; University of Ottawa; University of Alberta; Université Laval; McGill University Health Centre","funders":"National Institute of Mental Health; Fundamental Research Funds for the Central Universities; Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft; Genome British Columbia; Ontario Genomics Institute; Genome Alberta; Simons Foundation Autism Research Initiative; Austrian Science Fund; Wellcome Trust; Agence Nationale de la Recherche; E-Rare; Genome Canada; National Institutes of Health; Ontario Genomics","keywords":"Proteasome; Biology; Protein subunit; Cell biology; Proteostasis; Interferon; Protein degradation; Unfolded protein response; Transcriptome; ISG15; HEK 293 cells; Genetics; Gene; Ubiquitin; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001521392,0.001296244,0.0003254359,0.001026361,0.0004662966,0.0003256186,0.0003312856,0.0007868576,0.002221475],"category_scores_gemma":[0.0006029601,0.0001944134,0.0005132058,0.0006709439,0.0006038455,0.0002199333,0.0003548677,0.0005408479,0.000267849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004142381,"about_ca_system_score_gemma":0.0003764082,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002566186,"about_ca_topic_score_gemma":0.002290296,"domain_scores_codex":[0.9997784,0.00001799622,0.0000332272,0.00008269914,0.00005564068,0.00003196325],"domain_scores_gemma":[0.9994705,0.0000713258,0.0003138206,0.00002492414,0.00003397285,0.00008540073],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002406704,0.0001551845,0.1793577,0.0001998257,0.0003807873,0.1105401,0.0005504202,0.0009570965,0.6895553,0.000910528,0.0007985451,0.01418796],"study_design_scores_gemma":[0.00009491392,0.000660025,0.6362796,0.00006058535,0.000366048,0.2083505,0.0004198652,0.001956479,0.1469906,0.001107395,0.003653536,0.00006046834],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976769,0.0003496193,0.0009272103,0.00006206554,0.00001653626,0.00001244605,0.0005575683,0.00006165588,0.0003359519],"genre_scores_gemma":[0.9984475,0.0002067894,0.0006772144,0.00002661799,0.00001403606,0.000006095542,0.0003032233,0.00001795527,0.0003005006],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002566186,"threshold_uncertainty_score":0.007431567,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02952692522648516,"score_gpt":0.2686805340544898,"score_spread":0.2391536088280046,"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."}}