{"id":"W3041635606","doi":"10.1126/science.aay5663","title":"HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease","year":2020,"lang":"en","type":"article","venue":"Science","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":100,"is_retracted":false,"has_abstract":true,"ca_institutions":"CancerCare Manitoba","funders":"National Institutes of Health; National Cancer Institute; National Human Genome Research Institute; National Institute of Allergy and Infectious Diseases; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; American Diabetes Association","keywords":"Immune system; Actin; Actin cytoskeleton; Missense mutation; Biology; Phenotype; Gene; Cell biology; Cytoskeleton; Immunology; Genetics; Cell","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":[0.0001362777,0.0005958626,0.0001966448,0.000671092,0.0002116241,0.0002396567,0.0002405922,0.0004231167,0.001348258],"category_scores_gemma":[0.0001282741,0.0001683043,0.0001399395,0.0001685063,0.0005259743,0.0001475354,0.0002384792,0.0004920228,0.0002325098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003475219,"about_ca_system_score_gemma":0.0002094525,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000501197,"about_ca_topic_score_gemma":0.0008925199,"domain_scores_codex":[0.999876,0.00002526385,0.00001445031,0.00003080611,0.00003001777,0.00002343867],"domain_scores_gemma":[0.9999006,0.00002255549,0.00003461619,0.000004819363,0.000003920342,0.00003352771],"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":[0.0003186812,0.00006928035,0.001097806,0.00005087823,0.00001888074,0.001580268,0.00002652217,0.0003234509,0.9911281,0.0006223387,0.0002379945,0.004525864],"study_design_scores_gemma":[0.0001031294,0.0003985142,0.02562931,0.00003331819,0.00008272245,0.01264258,0.00006019943,0.003502221,0.9516486,0.0003790468,0.005501991,0.00001843599],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944898,0.001153381,0.001817388,0.00008518172,0.00002769552,0.00001623176,0.0003258446,0.0001026378,0.001981851],"genre_scores_gemma":[0.9969711,0.0004219732,0.001110155,0.00003959433,0.000008366606,0.00001219537,0.0002246237,0.00002099785,0.001190975],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001348258,"threshold_uncertainty_score":0.004510343,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008903507820782208,"score_gpt":0.2189409705645251,"score_spread":0.2100374627437429,"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."}}