{"id":"W2981880817","doi":"10.1002/ana.25629","title":"Genetic, Structural, and Functional Evidence Link <i>TMEM175</i> to Synucleinopathies","year":2019,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":107,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Université de Montréal; Canadian Sleep & Circadian Network; Université du Québec à Montréal; Hôpital du Sacré-Cœur de Montréal; Concordia University; PROTEO; McGill University; Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Cancer Institute; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Canadian Glycomics Network; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; National Institutes of Health; Canada First Research Excellence Fund; Parkinson's UK; Parkinson's Disease Foundation; Consortium canadien en neurodégénérescence associée au vieillissement; National Institute on Drug Abuse; Brookdale Foundation Group; Canada Foundation for Innovation; Brookdale Foundation; Natural Sciences and Engineering Research Council of Canada; W. Garfield Weston Foundation; Michael J. Fox Foundation for Parkinson's Research","keywords":"Synucleinopathies; Locus (genetics); Transmembrane domain; LRRK2; Biology; Genome-wide association study; Genetics; Genetic association; Homology modeling; Genotype; Parkinson's disease; Gene; Medicine; Single-nucleotide polymorphism; Internal medicine; Biochemistry; Disease; Alpha-synuclein; Mutation; Enzyme","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007461766,0.0007881757,0.000392192,0.0008727537,0.0003032887,0.0004402206,0.0005546712,0.0006066149,0.003329174],"category_scores_gemma":[0.001468078,0.0001533865,0.001012019,0.001348913,0.0004104655,0.0002011487,0.0003070119,0.0003243282,0.0003375005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002378753,"about_ca_system_score_gemma":0.0001747327,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001974631,"about_ca_topic_score_gemma":0.001987071,"domain_scores_codex":[0.9997017,0.00006851472,0.00004194921,0.0001090413,0.00005633487,0.00002240628],"domain_scores_gemma":[0.9992029,0.0002905499,0.0003636454,0.00003964325,0.00005645038,0.00004686171],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.004612107,0.000181681,0.8912562,0.001246647,0.008457505,0.004059295,0.0001786229,0.006856966,0.04451268,0.001006976,0.002072708,0.03555865],"study_design_scores_gemma":[0.0002908689,0.0006971901,0.9708709,0.0002810229,0.005059863,0.005020264,0.0001151494,0.005911614,0.006587591,0.001608482,0.003522893,0.00003409823],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9853261,0.009831408,0.001729596,0.0004710703,0.00005763393,0.00002203028,0.001423287,0.00006403571,0.001074818],"genre_scores_gemma":[0.9967457,0.001547,0.0007515189,0.0001153745,0.00006905281,0.000008720202,0.000610615,0.000009470667,0.0001425153],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003329174,"threshold_uncertainty_score":0.01113725,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05609400617772151,"score_gpt":0.3062352845907031,"score_spread":0.2501412784129816,"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."}}