{"id":"W4285676616","doi":"10.1007/s00401-022-02468-7","title":"X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition","year":2022,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute for Health and Care Research; Canadian Institutes of Health Research; Myotubular Trust; Institute of Musculoskeletal Health and Arthritis; Muscular Dystrophy Association; Joshua Frase Foundation","keywords":"Epigenetics; Valproic Acid; Zebrafish; Phenotype; DNA methylation; Biology; Genetics; Epigenome; Cancer research; Gene; Neuroscience; Epilepsy","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001309135,0.0002270631,0.0001620267,0.00005319381,0.0004565663,0.00005103843,0.0001428287,0.00007826027,0.0001215212],"category_scores_gemma":[0.00005617879,0.0002149675,0.0000434026,0.0002441485,0.0001064775,0.000005150503,0.0002767071,0.0001872298,0.000004672009],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001341643,"about_ca_system_score_gemma":0.00004310048,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003745197,"about_ca_topic_score_gemma":0.000003278788,"domain_scores_codex":[0.9984235,0.0002341188,0.0002195109,0.0006269235,0.0002106389,0.0002853631],"domain_scores_gemma":[0.9994338,0.00001325057,0.0001273316,0.0002724676,0.0000647706,0.00008839706],"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":[0.00004942589,0.0001613344,0.002562778,0.000003052274,0.00001686695,0.00004837057,0.0001620888,0.00002246448,0.9888788,0.000002353892,0.00780155,0.0002908981],"study_design_scores_gemma":[0.003654743,0.008728914,0.2830693,0.00002257446,0.0001418867,0.0004071067,0.0005068225,0.0004376456,0.6214633,0.0002806657,0.07965441,0.001632629],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975907,0.0004222354,0.00007694991,0.001004938,0.00006458662,0.0002959122,0.0002744611,0.00003101569,0.0002391634],"genre_scores_gemma":[0.9914734,0.0005283158,0.00009657982,0.006653078,0.000008065017,0.00009362645,0.0006589975,0.0000385096,0.0004494468],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3674155,"threshold_uncertainty_score":0.8766121,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008969495284142441,"score_gpt":0.2047403678756817,"score_spread":0.1957708725915393,"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."}}