{"id":"W4283832293","doi":"10.1182/blood.2022015674","title":"Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy","year":2022,"lang":"en","type":"article","venue":"Blood","topic":"Signaling Pathways in Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Cancer Agency; BC Children's Hospital; University of British Columbia","funders":"","keywords":"NFAT; Calcineurin; Cancer research; Germline; Biology; CD8; HEK 293 cells; Cell biology; Immunology; Transcription factor; Medicine; Gene; Genetics; Transplantation; Immune system; Internal medicine","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":[0.0001544627,0.0001336435,0.0001804378,0.00003621451,0.0001641552,0.00001169965,0.0001757963,0.00005065962,0.00007877367],"category_scores_gemma":[0.00004882576,0.0001379342,0.00008722305,0.00006321535,0.00007983898,0.000001585833,0.0002204097,0.00008933835,0.000001103522],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005314885,"about_ca_system_score_gemma":0.00006529286,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003392479,"about_ca_topic_score_gemma":0.000006864582,"domain_scores_codex":[0.998974,0.0001005173,0.0002485673,0.0003108658,0.0001740706,0.0001919445],"domain_scores_gemma":[0.9993923,0.00001211832,0.0001468818,0.0003375684,0.00003726238,0.00007388464],"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":[0.0000304294,0.0005561812,0.001756505,0.00004671487,0.00002815907,0.00002864649,0.00006096208,0.00002064514,0.9967427,0.000120227,0.0005691337,0.00003968253],"study_design_scores_gemma":[0.00384784,0.0008117756,0.003080821,0.00001265154,0.0001242814,0.00007108864,0.0001028209,0.000002562329,0.9888514,0.0001845881,0.002692544,0.0002176877],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917494,0.006888775,0.00001653556,0.00002509949,0.00007258401,0.0002180635,0.000309734,0.00001327992,0.0007065357],"genre_scores_gemma":[0.9993113,0.00001796534,0.000149762,0.0001393416,0.00005016817,0.00004354594,0.0001137904,0.00002082078,0.0001532765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007891374,"threshold_uncertainty_score":0.5624795,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01794821607786281,"score_gpt":0.2319464877928284,"score_spread":0.2139982717149656,"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."}}