{"id":"W2808070266","doi":"10.1038/s41380-018-0101-x","title":"A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling","year":2018,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; Government of Canada","keywords":"Presenilin; PSEN1; Notch signaling pathway; Biology; Cell biology; Senile plaques; Amyloid precursor protein secretase; Mutant; Alzheimer's disease; Mutation; Neuroscience; Cyclin-dependent kinase 8; Signal transduction; Amyloid precursor protein; Genetics; Gene; Medicine; Disease; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001372283,0.0002467047,0.000237485,0.0001455532,0.000223687,0.00005337122,0.00009820935,0.00006272052,0.000191484],"category_scores_gemma":[0.00008528607,0.0002162983,0.0002013711,0.0002721706,0.0001434392,0.0001069044,0.00005224604,0.0001975967,0.0003349698],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003529377,"about_ca_system_score_gemma":0.0005204634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004533099,"about_ca_topic_score_gemma":0.00001452183,"domain_scores_codex":[0.9981045,0.0001164042,0.0002341494,0.0004891703,0.0005763244,0.0004794424],"domain_scores_gemma":[0.9985227,0.0000267108,0.00008290231,0.0004912948,0.0002031652,0.0006732509],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003649259,0.003042137,0.9446825,0.0003925517,0.02163484,0.003275229,0.0006075742,0.00005658167,0.01637562,0.0007239957,0.002265628,0.003294134],"study_design_scores_gemma":[0.03787573,0.007711999,0.5361755,0.003442239,0.0366804,0.001115683,0.002439247,0.009645002,0.3448346,0.01463486,0.00146724,0.003977502],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9832556,0.01182444,0.0009164957,0.00140967,0.0003402015,0.0008931349,0.00001861991,0.0001652718,0.001176613],"genre_scores_gemma":[0.9947928,0.000008680582,0.00377417,0.0006255875,0.0005374003,0.00006549016,0.00009121591,0.00006918261,0.00003553642],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.408507,"threshold_uncertainty_score":0.882039,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02197686318911708,"score_gpt":0.3372187987991102,"score_spread":0.3152419356099931,"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."}}