{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000161126,0.0006071375,0.0003025932,0.0004532384,0.0001898991,0.0001833856,0.0001545211,0.0005014916,0.0009398534],"category_scores_gemma":[0.0001486419,0.0002058884,0.0002231434,0.0002266651,0.0003570624,0.0001101009,0.0001975358,0.0004971545,0.0002328642],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00025835,"about_ca_system_score_gemma":0.0001872458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004637667,"about_ca_topic_score_gemma":0.0007071337,"domain_scores_codex":[0.999877,0.00001774362,0.00001793393,0.00004273645,0.00002343677,0.00002114202],"domain_scores_gemma":[0.9999288,0.0000155508,0.0000247993,0.000006694952,0.000005756854,0.00001842123],"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":[0.0007179499,0.00009011231,0.003807854,0.0001120763,0.00003911007,0.002961335,0.00004128334,0.0001717762,0.9843324,0.0001524311,0.0003344317,0.007239332],"study_design_scores_gemma":[0.0002936516,0.00168253,0.1236816,0.00006074725,0.0003772537,0.03651555,0.0001716575,0.003414157,0.8218383,0.0004662829,0.01146151,0.00003670115],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946908,0.00150845,0.001892748,0.0002653424,0.00003497765,0.00003601734,0.0007757922,0.0001398566,0.0006559983],"genre_scores_gemma":[0.9952467,0.001212264,0.001698113,0.0001522844,0.00001616919,0.00002307865,0.000650617,0.00001596313,0.000984863],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009398534,"threshold_uncertainty_score":0.003144085,"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."}}