{"id":"W2039944783","doi":"10.1371/journal.pgen.1003043","title":"Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus","year":2012,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":115,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche","keywords":"Biology; Myotonic dystrophy; RNA splicing; Transgene; Trinucleotide repeat expansion; Alternative splicing; Gene; Locus (genetics); Gene expression; RNA; Genetically modified mouse; Messenger RNA; Untranslated region; Molecular biology; Genetics; Cell biology; Allele","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009976417,0.0005165745,0.0001516799,0.0005929442,0.0001641205,0.0001941548,0.0001342355,0.0003539012,0.00277572],"category_scores_gemma":[0.00008384087,0.0002204087,0.0001733664,0.0001504674,0.0002975361,0.0001332197,0.0001751789,0.0004719102,0.0004961133],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001701696,"about_ca_system_score_gemma":0.0001199657,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006724855,"about_ca_topic_score_gemma":0.0007207917,"domain_scores_codex":[0.9998947,0.0000106759,0.00001359895,0.00003494286,0.00003020833,0.00001593951],"domain_scores_gemma":[0.9998515,0.00001405631,0.00005446454,0.000006930085,0.000007068649,0.00006599128],"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":[0.0001406738,0.00003036969,0.0006269845,0.00002042046,0.000005702678,0.0001608336,0.00001766177,0.00003416074,0.9982409,0.00007516083,0.0000385058,0.0006085763],"study_design_scores_gemma":[0.0001397308,0.001096554,0.1138045,0.00003163033,0.00008225028,0.004426631,0.0001158678,0.001374483,0.8738215,0.0002458375,0.004840652,0.00002032382],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960414,0.0003841105,0.001147511,0.00007500136,0.000009780862,0.00001451682,0.001401896,0.00007958707,0.0008462653],"genre_scores_gemma":[0.9874668,0.0005635815,0.001973346,0.00007150426,0.00001174622,0.00005565969,0.00285909,0.00007604586,0.006922213],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00277572,"threshold_uncertainty_score":0.009285748,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05303233211687016,"score_gpt":0.2632873121417464,"score_spread":0.2102549800248762,"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."}}