{"id":"W4327575325","doi":"10.1016/j.cell.2023.02.023","title":"Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration","year":2023,"lang":"en","type":"article","venue":"Cell","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":68,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Université de Montréal; McMaster University; Centre Hospitalier Universitaire Sainte-Justine; Sinai Health System; McGill University Health Centre; Hospital for Sick Children; Jewish General Hospital; University of Toronto; McGill University","funders":"National Institute of General Medical Sciences; Garron Family Cancer Centre; Fonds de Recherche du Québec - Santé; Natural Sciences and Engineering Research Council of Canada; Fondation Charles-Bruneau; National Cancer Institute; University of Toronto; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Government of Ontario; Canadian Institutes of Health Research; Compute Canada; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; McGill University; McGill University Health Centre; National Institutes of Health; Ontario Genomics; Alex's Lemonade Stand Foundation for Childhood Cancer; National Institute of Allergy and Infectious Diseases; Cancer Research Society; Genome Canada; National Institute on Aging; Crohn's and Colitis Foundation","keywords":"Biology; Neurodegeneration; Histone H3; Epigenome; DNA methylation; Neuroinflammation; Gene silencing; Histone; Genetics; Epigenetics; Chromatin; Histone deacetylase; Cell biology; Gene expression; Gene; Immunology","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":[0.0001350363,0.00009166329,0.00006688864,0.00008195399,0.00004397424,0.00002476094,0.00006718618,0.00007581459,0.000006226134],"category_scores_gemma":[0.0000388987,0.00009542921,0.00002867324,0.0002032706,0.00001583253,0.000003210797,0.00004925924,0.00003914941,0.0000581979],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002882441,"about_ca_system_score_gemma":0.00003183027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009226203,"about_ca_topic_score_gemma":0.00005263933,"domain_scores_codex":[0.9992445,0.00005191898,0.0001494538,0.0002788118,0.00009285212,0.0001824585],"domain_scores_gemma":[0.9996499,0.000005980738,0.00004275862,0.0001951322,0.00004281857,0.00006345678],"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":[0.00001959171,0.00005158248,0.001083414,0.000008391649,0.000003032774,0.000008441732,0.00008981597,0.005171207,0.990827,0.00001535974,0.0004071119,0.002315084],"study_design_scores_gemma":[0.0002492965,0.000227354,0.003915234,0.000007472599,0.000005091425,4.291384e-7,0.00002078299,0.0003401861,0.9727131,0.00003754738,0.02237038,0.0001131565],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971465,0.000443156,0.0008898056,0.0001699234,0.0002741395,0.0004539475,0.000006088971,0.00001824519,0.0005981456],"genre_scores_gemma":[0.9981325,0.0001537159,0.0004078613,0.0001134785,0.0001419608,0.0001020634,0.0003152764,0.00001500662,0.0006181893],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02196326,"threshold_uncertainty_score":0.389149,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06224736220392715,"score_gpt":0.30831982678974,"score_spread":0.2460724645858128,"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."}}