{"id":"W4213350342","doi":"10.1038/s41380-022-01437-6","title":"Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation","year":2022,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Olav Thon Stiftelsen; IXICO; H. Lundbeck A/S; Genentech; Vlaamse regering; Servier; Innovative Medicines Initiative; University College London Hospitals NHS Foundation Trust; Vetenskapsrådet; Eisai; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Research Foundation; UK Dementia Research Institute; European Federation of Pharmaceutical Industries and Associations; National Institute on Aging; National Institute for Health and Care Research; Northern California Institute for Research and Education; Pfizer; Biogen; BioClinica; Universiteit Antwerpen; Alzheimer's Association; Stiftelsen för Gamla Tjänarinnor; Hjärnfonden; European Commission; Familjen Erling-Perssons Stiftelse; Steno Diabetes Center Copenhagen; University of Southern California; Novartis Pharmaceuticals Corporation; Eusko Jaurlaritza; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; F. Hoffmann-La Roche; Alzheimer's Drug Discovery Foundation; Alzheimer's Disease Neuroimaging Initiative; Meso Scale Diagnostics; Foundation for the National Institutes of Health","keywords":"Neurogranin; Inflammation; Dementia; Biomarker; Neuroscience; Frontotemporal dementia; Alzheimer's disease; Medicine; Biology; Disease; Genetics; Internal medicine; Signal transduction","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001555708,0.0008387539,0.001066546,0.001170329,0.00051097,0.0009220243,0.0005446326,0.0006186949,0.002391906],"category_scores_gemma":[0.002700199,0.0002887782,0.002554175,0.001687262,0.0004132684,0.0003636764,0.0005662212,0.0005853714,0.0001590104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004355419,"about_ca_system_score_gemma":0.0004005202,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006670997,"about_ca_topic_score_gemma":0.006576852,"domain_scores_codex":[0.9986632,0.0003337023,0.000157062,0.0005444781,0.0001581517,0.000143447],"domain_scores_gemma":[0.9980269,0.0008836497,0.0005618809,0.0002260148,0.0001303531,0.0001711381],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005860706,0.00004986842,0.9594039,0.0004061947,0.01091638,0.001181803,0.0002503741,0.0007220012,0.01125604,0.0002290683,0.000365345,0.009358529],"study_design_scores_gemma":[0.0001358739,0.0003249768,0.9816291,0.00007746256,0.009334898,0.002039879,0.0002194031,0.002375302,0.002116684,0.000486181,0.00123847,0.00002179936],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945642,0.00310678,0.0009003781,0.00010593,0.00001720065,0.0000123306,0.0008824556,0.00001899212,0.0003917737],"genre_scores_gemma":[0.9984913,0.0003062638,0.0004381946,0.00002761478,0.00001191768,0.00001130027,0.0005362922,0.00001062491,0.0001665491],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006670997,"threshold_uncertainty_score":0.01326436,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009618612136240748,"score_gpt":0.2687546903722545,"score_spread":0.2591360782360137,"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."}}