{"id":"W4409621884","doi":"10.1038/s41593-025-01943-0","title":"Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes","year":2025,"lang":"en","type":"article","venue":"Nature Neuroscience","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Mental Health; Canadian Institutes of Health Research; Azrieli Foundation; U.S. Department of Health and Human Services; Government of Canada; University of Nevada, Las Vegas; Narodowe Centrum Nauki; Muscular Dystrophy Association; Myotonic Dystrophy Foundation","keywords":"Myotonic dystrophy; Autism; RNA splicing; Genetics; Biology; Trinucleotide repeat expansion; Alternative splicing; Gene; Muscular dystrophy; Neuroscience; Psychology; RNA; Exon; Psychiatry; Allele","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":[0.0001994332,0.00081325,0.0003364261,0.001291003,0.0003212543,0.0003153566,0.0004338033,0.0006705307,0.002802717],"category_scores_gemma":[0.0001807508,0.0003307024,0.0003166174,0.0002319879,0.0006311069,0.0002459264,0.0004624735,0.0008004371,0.0004899736],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003739273,"about_ca_system_score_gemma":0.0002410799,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000796569,"about_ca_topic_score_gemma":0.003069786,"domain_scores_codex":[0.9996797,0.00005940713,0.00004282119,0.00009527498,0.00008231086,0.00004053023],"domain_scores_gemma":[0.9996933,0.00005216792,0.0001409546,0.00002223557,0.00001074981,0.00008067537],"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":[0.0001272539,0.00003817021,0.0003537378,0.00002904667,0.00001071995,0.0003326772,0.00003786226,0.00008634129,0.9976692,0.0002565807,0.0000504593,0.001007936],"study_design_scores_gemma":[0.00007444878,0.0005758283,0.02208204,0.00004462514,0.00005859719,0.003835341,0.0001340565,0.002215276,0.966616,0.0003855733,0.003956652,0.00002147506],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917721,0.0005749756,0.004923217,0.000175969,0.00004499376,0.00004652217,0.0007322767,0.0002627912,0.001467149],"genre_scores_gemma":[0.983582,0.0005746795,0.007989024,0.0001039804,0.0000160961,0.0001500735,0.0008265155,0.0001333986,0.006624306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002802717,"threshold_uncertainty_score":0.009376049,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01463275945006578,"score_gpt":0.2754973817891989,"score_spread":0.2608646223391332,"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."}}