{"id":"W2128178879","doi":"10.1093/hmg/ddq456","title":"Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation","year":2010,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":86,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Vrije Universiteit Brussel; Fonds Wetenschappelijk Onderzoek; Vlaamse regering; Muscular Dystrophy Canada","keywords":"Myotonic dystrophy; Trinucleotide repeat expansion; Biology; Genetics; DNA mismatch repair; Microsatellite instability; Cellular differentiation; DNA repair; Embryonic stem cell; Huntington's disease; Cell biology; Molecular biology; Gene; Microsatellite; Allele; Pathology; Disease","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":[0.00008914288,0.0001541313,0.0001341835,0.0001154056,0.0000659449,0.0001807299,0.00009288826,0.0001183418,0.0008807229],"category_scores_gemma":[0.00007688678,0.00007730945,0.0001076286,0.00008510675,0.0001560315,0.00009279345,0.0001405925,0.0002676425,0.0002572607],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001227487,"about_ca_system_score_gemma":0.0001073627,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003294528,"about_ca_topic_score_gemma":0.0008876269,"domain_scores_codex":[0.9999155,0.0000111495,0.00001474695,0.00001848261,0.00002564593,0.00001443607],"domain_scores_gemma":[0.9999291,0.00001438203,0.00001647489,0.00001126716,0.00001242944,0.000016402],"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":[0.00003282823,0.000005892883,0.00008901098,0.00001157214,0.000001816505,0.00003029298,0.00001507529,0.00001471396,0.9991364,0.00007028608,0.00001644474,0.0005756468],"study_design_scores_gemma":[0.00000523273,0.00008508384,0.004976143,0.000004146902,0.00000960738,0.0001440996,0.00002217475,0.0002080635,0.9923765,0.00002843016,0.002138493,0.0000021074],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960734,0.0009690233,0.001189635,0.00003717583,0.00001905257,0.00001442863,0.0003924108,0.00003955611,0.001265467],"genre_scores_gemma":[0.9892191,0.0009434212,0.002001428,0.00005314942,0.000009089359,0.00003984103,0.001032322,0.00003555823,0.006666109],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008807229,"threshold_uncertainty_score":0.002946317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01141451604977083,"score_gpt":0.2429824390886297,"score_spread":0.2315679230388589,"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."}}