{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009351394,0.0003105246,0.0002176563,0.0002048168,0.0001002452,0.0001200649,0.00009713467,0.0001436971,0.001122861],"category_scores_gemma":[0.00005624844,0.00007235728,0.0001929113,0.0001118459,0.0001498183,0.00006691558,0.0001366754,0.0002406876,0.0001560463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001429606,"about_ca_system_score_gemma":0.0001230122,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004056875,"about_ca_topic_score_gemma":0.001535053,"domain_scores_codex":[0.9999452,0.00000819644,0.000005261533,0.00001336231,0.00001483923,0.00001329612],"domain_scores_gemma":[0.9999726,0.000002869495,0.00001284462,0.000002455552,0.000002677463,0.000006641534],"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":[0.0001790893,0.00002201048,0.0007786127,0.00004807136,0.00001837428,0.0001538137,0.000009481144,0.00005899372,0.9936379,0.00008169247,0.00005045129,0.004961579],"study_design_scores_gemma":[0.00005726739,0.001393185,0.04627644,0.0000259301,0.00008765265,0.001508703,0.00005345197,0.0006479126,0.9447518,0.0001314978,0.005058263,0.000007972919],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934224,0.003059441,0.001404725,0.0001204354,0.00002055073,0.0000243525,0.0002938395,0.00009482366,0.001559307],"genre_scores_gemma":[0.9953225,0.00163793,0.001131686,0.00004836318,0.000005994152,0.00001889702,0.0002008606,0.000009761319,0.001623898],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001122861,"threshold_uncertainty_score":0.003756344,"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."}}