{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002233596,0.00008824274,0.0001858158,0.0004227593,0.0001853319,0.00001799958,0.0004499088,0.00009583769,0.00003720033],"category_scores_gemma":[0.0008569772,0.00005911352,0.00009528222,0.001041575,0.000652242,0.0002393729,0.00008963386,0.0002299341,0.000005044689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006466713,"about_ca_system_score_gemma":0.00004540503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000323677,"about_ca_topic_score_gemma":5.025221e-7,"domain_scores_codex":[0.9983152,0.00001531688,0.0003182802,0.0002126557,0.0009016883,0.0002368419],"domain_scores_gemma":[0.9994448,0.0001281932,0.0001741088,0.00001204464,0.0001714716,0.00006940521],"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":[0.00001707437,0.00009484244,0.01495299,0.00007957489,0.00002155577,4.341356e-8,0.0002804448,0.00005943578,0.9741105,0.009790804,0.00008359701,0.0005090956],"study_design_scores_gemma":[0.0005305499,0.0001978219,0.2454323,0.000200792,0.0000312501,0.00003260478,0.0002132955,0.009945174,0.7206395,0.02240369,0.000269765,0.0001032445],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891034,0.00004771746,2.804404e-7,0.003138592,0.000004404704,0.0001640387,0.000005167864,0.00001344294,0.007522904],"genre_scores_gemma":[0.9984303,0.0000173976,0.001097091,0.0002712591,0.00004137855,0.00000571126,1.358899e-7,0.000007359371,0.0001294073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.253471,"threshold_uncertainty_score":0.2410579,"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."}}