{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002436565,0.0006852836,0.0004897096,0.0005606801,0.0004439364,0.0003202171,0.000778876,0.001190501,0.006080239],"category_scores_gemma":[0.0003107423,0.000445284,0.0007420912,0.0005140964,0.0008054966,0.0001830329,0.0006068473,0.001229295,0.001284304],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005477525,"about_ca_system_score_gemma":0.0005899095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003647888,"about_ca_topic_score_gemma":0.004932913,"domain_scores_codex":[0.9996623,0.00005591261,0.00005281955,0.0000792093,0.00007858449,0.00007132063],"domain_scores_gemma":[0.9996049,0.00008533959,0.0001224422,0.00005161202,0.00002429391,0.000111404],"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":[0.000275139,0.00008717641,0.0002177972,0.00003554848,0.00004763031,0.0005504864,0.00002557769,0.0002326426,0.9968612,0.0002652218,0.0002346506,0.001166889],"study_design_scores_gemma":[0.0002051007,0.0005774011,0.008137964,0.00002117426,0.0001392556,0.001858954,0.00008261684,0.002458385,0.9806374,0.0003715814,0.005468679,0.00004151614],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9869176,0.0006942139,0.005866864,0.0005122309,0.0003864402,0.0001395221,0.002374826,0.0005519185,0.002556342],"genre_scores_gemma":[0.9931379,0.0003129324,0.002551049,0.0001724343,0.00002145215,0.00006123844,0.0005834905,0.0001433775,0.003016132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006080239,"threshold_uncertainty_score":0.02034044,"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."}}