{"id":"W4399173681","doi":"10.1016/j.cell.2024.04.041","title":"A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis","year":2024,"lang":"en","type":"article","venue":"Cell","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Horizon 2020 Framework Programme; Sickkids Research Institute; Hospital for Sick Children; Fonds De La Recherche Scientifique - FNRS; Mizutani Foundation for Glycoscience; Agence Nationale de la Recherche; Fonds Wetenschappelijk Onderzoek; Walloon excellence in life sciences and biotechnology; McLaughlin Centre, University of Toronto; Marie Curie; H2020 European Research Council; Centre National de la Recherche Scientifique; Fonds Baillet Latour; European Resuscitation Council; KU Leuven; Fondation Médicale Reine Elisabeth; Université Catholique de Louvain","keywords":"Dolichol; Biology; Pseudoautosomal region; Glycosylation; Biosynthesis; Biochemistry; Gene; Glycosyltransferase; Reductase; Enzyme; Genetics; X chromosome","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":[0.0001210135,0.000692478,0.00031617,0.0005031022,0.000348754,0.000285677,0.0002656056,0.0008294114,0.001370182],"category_scores_gemma":[0.0005220021,0.0001099577,0.0002652275,0.000356767,0.0007425935,0.0002986698,0.000366061,0.0006341608,0.0002336804],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002810709,"about_ca_system_score_gemma":0.0003641781,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007614437,"about_ca_topic_score_gemma":0.0007482743,"domain_scores_codex":[0.9998378,0.0000238122,0.0000199599,0.00005317719,0.00003255055,0.00003278684],"domain_scores_gemma":[0.9997848,0.00005382884,0.00004983313,0.00001813262,0.0000192106,0.00007424144],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008629407,0.00008781401,0.02702054,0.0001379428,0.0000500721,0.5524024,0.0005598589,0.0004248541,0.395086,0.00526642,0.001122043,0.01697914],"study_design_scores_gemma":[0.00006054034,0.0004549895,0.06621857,0.00003537634,0.00008986165,0.7813455,0.0006092184,0.002291867,0.1348108,0.002313132,0.01172055,0.00004952882],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929183,0.0008469048,0.00323683,0.0005893624,0.0001107338,0.00002196016,0.0002886825,0.0001191613,0.001868],"genre_scores_gemma":[0.9965048,0.0004647445,0.00172271,0.0000979479,0.00004280023,0.000005490511,0.0001321393,0.00001981006,0.001009623],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001370182,"threshold_uncertainty_score":0.004583776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01017882683242629,"score_gpt":0.2716242913458691,"score_spread":0.2614454645134429,"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."}}