{"id":"W2903855557","doi":"10.3389/fgene.2018.00635","title":"MECP2 Mutation Interrupts Nucleolin–mTOR–P70S6K Signaling in Rett Syndrome Patients","year":2018,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of Toronto; Western University; University of Manitoba","funders":"Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada; National Science Council; International Rett Syndrome Foundation","keywords":"Nucleolin; MECP2; Rett syndrome; Biology; Ribosome biogenesis; PI3K/AKT/mTOR pathway; Molecular biology; Nucleolus; Cell biology; RNA; Gene; Genetics; Signal transduction; Ribosome; Phenotype; Cytoplasm","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":[0.00008605701,0.0006211047,0.0003892367,0.0006635354,0.0003791656,0.0003531227,0.0002127794,0.0007253921,0.001918699],"category_scores_gemma":[0.0004110462,0.0002271161,0.0005074181,0.0004249089,0.0002841111,0.0001607506,0.000281061,0.0003390997,0.0003483921],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002775386,"about_ca_system_score_gemma":0.0001610116,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002109808,"about_ca_topic_score_gemma":0.002331298,"domain_scores_codex":[0.9998092,0.00001341361,0.00002620372,0.00008351423,0.00004180196,0.00002581693],"domain_scores_gemma":[0.9998788,0.00002441279,0.00004590031,0.000005158617,0.00001151455,0.00003420752],"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":[0.003103813,0.0001921993,0.2285788,0.0003148916,0.0005252276,0.215276,0.001185024,0.0009751281,0.5184518,0.000515878,0.001994542,0.02888667],"study_design_scores_gemma":[0.0001752404,0.0007273029,0.6694478,0.0001070179,0.0005987633,0.280526,0.0005592221,0.001826709,0.03963637,0.0004773131,0.00584914,0.00006914805],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979641,0.0006780769,0.0002642739,0.0000618894,0.00001399762,0.00001424475,0.0004431432,0.00003302011,0.000527254],"genre_scores_gemma":[0.9985518,0.0002804404,0.0002939985,0.0000693551,0.00001198444,0.00001001041,0.0003898073,0.00001660806,0.0003760721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002109808,"threshold_uncertainty_score":0.006418705,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006659751574412583,"score_gpt":0.2217694086441146,"score_spread":0.215109657069702,"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."}}