{"id":"W2087564804","doi":"10.1073/pnas.2135497100","title":"Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome","year":2003,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Complement system in diseases","field":"Immunology and Microbiology","cited_by":407,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of Allergy and Infectious Diseases","keywords":"CD46; Factor H; Atypical hemolytic uremic syndrome; Complement factor I; Biology; Complement system; Heterozygote advantage; CD59; Alternative complement pathway; Mutation; Mutant; Complement membrane attack complex; Molecular biology; Immunology; Gene; Genetics; Allele; Antibody","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":[0.001063151,0.0001144023,0.0002418302,0.0002879551,0.0001989941,0.000006485591,0.0006116601,0.00006335048,0.0001353026],"category_scores_gemma":[0.0003330564,0.00008834971,0.00005472506,0.0005707645,0.0004561683,0.0001377245,0.000120639,0.00009795264,0.000003799845],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000987209,"about_ca_system_score_gemma":0.0001154452,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001235736,"about_ca_topic_score_gemma":0.000001434501,"domain_scores_codex":[0.9984429,0.00002634443,0.0007085481,0.000248199,0.0003732785,0.0002006781],"domain_scores_gemma":[0.9992663,0.0000716274,0.0004297684,0.00001582333,0.0001945711,0.00002191429],"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":[0.00001698143,0.0001455859,0.01370288,0.0001294077,0.00003108387,8.52643e-9,0.0005299685,0.00005819652,0.9596117,0.02560148,0.0001491446,0.00002358904],"study_design_scores_gemma":[0.0004893689,0.00006818782,0.184551,0.0003066183,0.00001059579,0.000008830919,0.0004621984,0.000007267796,0.809778,0.003996429,0.0002314722,0.00009001969],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980684,0.00007095568,0.000002136319,0.0002716822,0.00002709697,0.0009031883,0.00005697133,0.000008889187,0.0005907025],"genre_scores_gemma":[0.9985312,4.056556e-7,0.00122387,0.00002839374,0.000004053227,0.00005821164,0.000002262797,0.000004055474,0.0001475756],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1708482,"threshold_uncertainty_score":0.3602796,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0471212459355143,"score_gpt":0.3098217747833766,"score_spread":0.2627005288478623,"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."}}