{"id":"W2998849035","doi":"10.1007/s00439-019-02104-7","title":"Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene","year":2020,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Ministero dell’Istruzione, dell’Università e della Ricerca; Fondazione Telethon","keywords":"SOD2; Fragile X syndrome; FMR1; Biology; Molecular biology; Mitochondrion; Messenger RNA; Cell biology; Mutation; Genetics; Gene; Fragile x; Endocrinology; Superoxide dismutase; Oxidative stress","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":[0.00004256242,0.0001331212,0.0001126331,0.00003308072,0.00006606854,0.00001542665,0.0001637748,0.0001027541,0.00002284208],"category_scores_gemma":[0.00002917526,0.0001136536,0.00006024548,0.0001824318,0.00004739284,0.000002332522,0.0000946083,0.00007787813,0.000003580093],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001160514,"about_ca_system_score_gemma":0.00007025062,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009181266,"about_ca_topic_score_gemma":0.000120709,"domain_scores_codex":[0.9990048,0.00008242166,0.0003113018,0.0002907361,0.0001566941,0.0001540858],"domain_scores_gemma":[0.999567,0.00000598932,0.0001354751,0.0001830806,0.00006044449,0.00004799887],"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":[0.0001912565,0.00003367238,0.0006809424,0.00002755464,0.0000187984,9.263598e-7,0.0004226466,0.007722202,0.9900349,0.000002229729,0.0001807785,0.0006841401],"study_design_scores_gemma":[0.001115264,0.0005938555,0.03402122,0.00001034822,0.00002721234,0.00000214025,0.0001392009,0.0008959612,0.9621758,0.00006202709,0.0007991626,0.0001577666],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975172,0.0002011203,0.001464349,0.00006857579,0.0002851903,0.0003686363,0.00001215593,0.000006474185,0.00007625712],"genre_scores_gemma":[0.9985255,0.00007158405,0.0008886089,0.000237268,0.00007554406,0.00001416918,0.0000900277,0.00002479641,0.00007249184],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03334028,"threshold_uncertainty_score":0.4634659,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0220759847333684,"score_gpt":0.2437735553898817,"score_spread":0.2216975706565133,"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."}}