{"id":"W2048698636","doi":"10.1002/ajmg.a.36641","title":"Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in <i>MAFB</i>, a negative regulator of RANKL‐induced osteoclastogenesis","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Bone Metabolism and Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Shriners Hospitals for Children; National Institute of Diabetes and Digestive and Kidney Diseases; Foundation for Barnes-Jewish Hospital","keywords":"Regulator; RANKL; Osteolysis; Master regulator; Cancer research; Negative regulator; Cell biology; Chemistry; Medicine; Internal medicine; Biology; Genetics; Signal transduction; Gene; Receptor; Transcription factor; Activator (genetics); Dentistry","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":[0.0006304997,0.0002547254,0.0007221717,0.000199754,0.00005295854,0.00001948361,0.0004590912,0.0001586091,0.00008428496],"category_scores_gemma":[0.0003543918,0.0002279226,0.0002861632,0.0005864456,0.0005279485,0.000007509351,0.0001046074,0.0002098275,0.000004984485],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002474325,"about_ca_system_score_gemma":0.0005204316,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007917123,"about_ca_topic_score_gemma":0.00004841191,"domain_scores_codex":[0.9968885,0.0004694592,0.0009390577,0.0003383677,0.0009878523,0.0003767521],"domain_scores_gemma":[0.997893,0.0001600753,0.0007205969,0.0003820122,0.0002665694,0.000577685],"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":[0.002155832,0.002939921,0.07959756,0.0001732745,0.001779598,0.000366147,0.00457213,0.0004447084,0.670117,0.0001084976,0.01300438,0.224741],"study_design_scores_gemma":[0.04002904,0.01541981,0.3096363,0.001004142,0.002331102,0.001828303,0.01043606,0.0008803085,0.4042592,0.0005723725,0.2103857,0.003217652],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941884,0.003358498,0.001256884,0.0007262123,0.0001986474,0.0001621601,0.00007308697,0.000003851482,0.00003230421],"genre_scores_gemma":[0.9963629,0.001252048,0.001559224,0.0005376867,0.000184278,0.000009249994,0.00002677444,0.00003461662,0.0000331894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2658578,"threshold_uncertainty_score":0.9294415,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006796841943400694,"score_gpt":0.2457407181621959,"score_spread":0.2389438762187952,"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."}}