{"id":"W2027994069","doi":"10.1007/s00109-006-0046-4","title":"Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers–Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7)","year":2006,"lang":"en","type":"article","venue":"Journal of Molecular Medicine","topic":"Proteoglycans and glycosaminoglycans research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":115,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University Health Network","funders":"","keywords":"Decorin; Biglycan; Dermatan sulfate; Versican; Proteoglycan; Extracellular matrix; Fibrillogenesis; Chemistry; Molecular biology; Immunoelectron microscopy; Fibroblast; Chondroitin sulfate; Glycosaminoglycan; Cell biology; Biochemistry; Biology; Fibril; In vitro; Immunology; Immunohistochemistry","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001461924,0.001175175,0.0003031924,0.0008832415,0.00040304,0.0003594857,0.0002779483,0.000758503,0.001509949],"category_scores_gemma":[0.0004335753,0.0004053348,0.0003551818,0.0002901675,0.00056769,0.0001773486,0.0002854567,0.0005946431,0.0003861459],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002355725,"about_ca_system_score_gemma":0.0002196231,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00142976,"about_ca_topic_score_gemma":0.001122494,"domain_scores_codex":[0.9998052,0.00002557867,0.00002738418,0.000048066,0.00006190845,0.00003191238],"domain_scores_gemma":[0.9997454,0.00006439702,0.00004850778,0.00001918941,0.00001658588,0.00010596],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0006004258,0.000153028,0.009757436,0.00004881052,0.00008736364,0.1357303,0.0004384208,0.000313547,0.8488104,0.0002993295,0.0001775641,0.003583516],"study_design_scores_gemma":[0.0002073638,0.0006291337,0.1254417,0.00002119094,0.0002966955,0.5662248,0.0004732469,0.003693759,0.2999531,0.0006178113,0.002370317,0.00007096767],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981818,0.0002214052,0.0004996863,0.00008869311,0.00001998321,0.000009200044,0.0001175835,0.0000283291,0.0008334212],"genre_scores_gemma":[0.9985399,0.0001046894,0.0003873901,0.00003556195,0.00000911122,0.00000412182,0.00008052706,0.00001148275,0.0008272144],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001509949,"threshold_uncertainty_score":0.005051255,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006034924860800029,"score_gpt":0.2309326794525193,"score_spread":0.2248977545917193,"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."}}