{"id":"W2909310706","doi":"10.1172/jci123959","title":"Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Sphingolipid Metabolism and Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":106,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; European Regional Development Fund; Agència de Gestió d'Ajuts Universitaris i de Recerca; Canadian Institutes of Health Research; U.S. Navy; Intellectual and Developmental Disabilities Research Center; National Institutes of Health; Université Paris Diderot; Ministerio de Economía y Competitividad; Fondation pour la Recherche Médicale; Generalitat de Catalunya; Baylor-Hopkins Center for Mendelian Genomics; Agence Nationale de la Recherche; Instituto de Salud Carlos III; National Research Foundation; National Multiple Sclerosis Society; Fundación Hesperia; Center for Individualized Medicine, Mayo Clinic; Centres de Recerca de Catalunya; Ontario Genomics Institute; Howard Hughes Medical Institute; Georgia Clinical and Translational Science Alliance; Simons Foundation Autism Research Initiative; Génome Québec; Mayo Clinic; National Ataxia Foundation; Ontario Genomics; U.S. Department of Defense; Simons Foundation; Genome Canada; Yale University; Institut National de la Santé et de la Recherche Médicale; Johns Hopkins University; McGill University; European Commission; Broad Institute","keywords":"Sphingolipid; Leukodystrophy; Myelin; Fingolimod; Biology; Spasticity; Endoplasmic reticulum; Zebrafish; Neuroscience; Ceramide; Cell biology; Medicine; Internal medicine; Genetics; Multiple sclerosis; Immunology; Disease; Gene; Physical medicine and rehabilitation; Central nervous system","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":[0.001608863,0.0001070829,0.0003236001,0.00003933553,0.00004502831,0.00001908749,0.0003033948,0.0001641421,0.00001048812],"category_scores_gemma":[0.00284232,0.00007090621,0.0003290655,0.0001261092,0.0001736796,0.00001755394,0.0001097052,0.0003059701,0.000003466796],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007133811,"about_ca_system_score_gemma":0.0002645997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008410452,"about_ca_topic_score_gemma":0.000003214081,"domain_scores_codex":[0.9980323,0.0002582707,0.001145326,0.0001458513,0.0002881194,0.0001301751],"domain_scores_gemma":[0.9977491,0.0001558387,0.001342057,0.0002617839,0.0003789757,0.0001122],"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":[0.0001172852,0.00004431254,0.2615421,0.00004189894,0.00007525712,0.000001596381,0.00006403862,0.000917579,0.7347428,0.0002364704,0.0003897212,0.001827047],"study_design_scores_gemma":[0.002455101,0.0005507633,0.2628606,0.0002914062,0.0001470271,0.00007655472,0.0001531855,0.0004613659,0.7253471,0.00163658,0.005794269,0.0002260214],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974732,0.0003843867,0.0002395692,0.0002778055,0.001426558,0.00009398139,0.000002877107,0.00000236047,0.00009920954],"genre_scores_gemma":[0.9952313,0.0001068303,0.002451309,0.0005186498,0.001594119,6.269048e-7,0.000003719304,0.00001347307,0.00008001112],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009395611,"threshold_uncertainty_score":0.3402728,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03387428700805739,"score_gpt":0.3201678742075613,"score_spread":0.2862935871995039,"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."}}