{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009427786,0.0009713197,0.000308764,0.0004321223,0.000281489,0.0002090704,0.0001651515,0.0004026612,0.002196732],"category_scores_gemma":[0.0003606062,0.0001354526,0.0001817796,0.0002737483,0.0005106027,0.0001757484,0.0003650027,0.0003198799,0.0002982134],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002087807,"about_ca_system_score_gemma":0.0002225409,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006371427,"about_ca_topic_score_gemma":0.0009527303,"domain_scores_codex":[0.9999007,0.00001510788,0.00001099699,0.00003219533,0.00002368227,0.00001731385],"domain_scores_gemma":[0.9998922,0.00002382751,0.00004203077,0.000006246608,0.000007240072,0.00002830127],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005829707,0.00007883581,0.0171765,0.0001026351,0.00007315178,0.0237881,0.0001597623,0.0006346037,0.9311553,0.0006734515,0.0005677468,0.0250069],"study_design_scores_gemma":[0.0001267594,0.001172545,0.1615183,0.00007730599,0.0002291921,0.1746768,0.0003132147,0.002393652,0.6444712,0.0009443128,0.01402196,0.00005476805],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926631,0.001831749,0.001821572,0.0001803005,0.00002834004,0.00003841702,0.0004399938,0.0001808388,0.002815615],"genre_scores_gemma":[0.9964869,0.0009957016,0.001299152,0.00004913023,0.00001323506,0.000009810858,0.000258083,0.00003010147,0.0008578488],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002196732,"threshold_uncertainty_score":0.007348776,"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."}}