{"id":"W4361190175","doi":"10.1172/jci165019","title":"CERT1 mutations perturb human development by disrupting sphingolipid homeostasis","year":2023,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Sphingolipid Metabolism and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Hospital for Sick Children; University of Alberta; University of Victoria; University of Calgary","funders":"Natural Sciences and Engineering Research Council of Canada; Vagelos College of Physicians and Surgeons, Columbia University; Children's Health Foundation; Ministero della Salute; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; École Polytechnique Fédérale de Lausanne; National Natural Science Foundation of China; Institut National de la Santé et de la Recherche Médicale; Deutsche Forschungsgemeinschaft; National Institute of Neurological Disorders and Stroke; Narodowym Centrum Nauki; Stiftung für die Erforschung der Muskelkrankheiten; National Institute for Health and Care Research; National Institute of Diabetes and Digestive and Kidney Diseases; Instituto de Salud Carlos III; Simons Foundation Autism Research Initiative; Uniwersytet Medyczny im. Piastów Slaskich we Wroclawiu; Wellcome Trust; Stiftelsen Kristian Gerhard Jebsen; National Science Foundation","keywords":"Sphingolipid; Homeostasis; Cell biology; Biology; Mutation; Computational biology; Genetics; Gene","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":[0.001956424,0.0001225648,0.0002774,0.00009995659,0.0001870844,0.00005097677,0.0001921664,0.0001612749,0.00001296591],"category_scores_gemma":[0.001962199,0.0001070462,0.0001820698,0.0002249364,0.0001094441,0.00001972555,0.00006064189,0.0002369311,0.00001625552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001154291,"about_ca_system_score_gemma":0.0001966471,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005226896,"about_ca_topic_score_gemma":0.000004158382,"domain_scores_codex":[0.997923,0.0001557642,0.001248447,0.0001932906,0.0002865281,0.0001930182],"domain_scores_gemma":[0.9985709,0.000124753,0.0007051751,0.0001416419,0.0002316229,0.0002259554],"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":[0.00009063169,0.0001540777,0.07232682,0.00006287578,0.000284749,0.00001343356,0.001070942,0.0006185845,0.8453632,0.0002399213,0.04565328,0.03412145],"study_design_scores_gemma":[0.00576934,0.0009646297,0.2205928,0.0003063547,0.0002516088,0.0000719485,0.001133945,0.0009528183,0.4664441,0.002844055,0.2997567,0.0009116414],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978031,0.0002816628,0.0007139169,0.0005139494,0.0004746548,0.0000647897,0.000004095648,0.00001595384,0.0001278992],"genre_scores_gemma":[0.9949148,0.0001746693,0.002350451,0.0005660807,0.001490535,0.000003878562,0.0001778899,0.00002186184,0.0002998581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3789191,"threshold_uncertainty_score":0.4365218,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07409829802251386,"score_gpt":0.3804851915714995,"score_spread":0.3063868935489856,"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."}}