{"id":"W1977359945","doi":"10.1073/pnas.1414555112","title":"Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis","year":2014,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Thymidylate synthase; Biology; Megaloblastic anemia; Methylenetetrahydrofolate reductase; Methyltransferase; Biochemistry; Genetics; Mutation; Uracil; Biosynthesis; Genome instability; Molecular biology; Enzyme; Gene; DNA; Methylation; Allele; DNA damage; Vitamin B12; Cancer","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":[0.0001175787,0.000633381,0.0003057148,0.0003260781,0.0002431638,0.0002502552,0.0001747055,0.0004392524,0.001551473],"category_scores_gemma":[0.0003180271,0.0001592863,0.0001550861,0.0001745378,0.000291169,0.0001289713,0.0001875288,0.0002612386,0.0002606828],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003059825,"about_ca_system_score_gemma":0.0001763484,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001767572,"about_ca_topic_score_gemma":0.002269794,"domain_scores_codex":[0.9998739,0.00002355662,0.00001848374,0.00003033113,0.00003571748,0.00001799968],"domain_scores_gemma":[0.9998765,0.00005005171,0.0000319526,0.000009468584,0.000008002447,0.00002399612],"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":[0.0003148494,0.00004657912,0.004597372,0.00006619388,0.00003215067,0.002389555,0.0001084039,0.0002178146,0.9874579,0.0001696722,0.00009107781,0.004508399],"study_design_scores_gemma":[0.00004884401,0.0005664845,0.04181964,0.00002297963,0.0001035383,0.01989645,0.0001711404,0.001460563,0.9319453,0.0001878434,0.003763776,0.00001349431],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980946,0.000840219,0.000481507,0.00003474032,0.000007678778,0.000005587134,0.000147493,0.00002347017,0.0003646172],"genre_scores_gemma":[0.9984673,0.0005107305,0.0003879702,0.00001550144,0.000004106195,0.000003636791,0.0001636856,0.000006103108,0.0004409869],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001767572,"threshold_uncertainty_score":0.005190194,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04557400093901684,"score_gpt":0.3492888568922639,"score_spread":0.3037148559532471,"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."}}