{"id":"W2943208396","doi":"10.1016/j.bbadis.2019.04.018","title":"COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing","year":2019,"lang":"en","type":"article","venue":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":false,"ca_institutions":"The Scarborough Hospital; University of Toronto","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Israel Science Foundation; European Commission","keywords":"Procollagen peptidase; Protein precursor; Chemistry; Fibril; Osteogenesis imperfecta; Type I collagen; Extracellular matrix; Mutant; Molecular biology; Fibrillogenesis; Cell biology; Biochemistry; Biology; Gene; Anatomy; Endocrinology","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":[0.0001735878,0.00112769,0.0003219834,0.0006272075,0.0003638151,0.000330628,0.0004125818,0.0009655034,0.004246925],"category_scores_gemma":[0.0003504563,0.0003148027,0.0004351667,0.0003329529,0.0008203248,0.0002239818,0.0004050674,0.0007830681,0.001627426],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004317834,"about_ca_system_score_gemma":0.0002338917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001280175,"about_ca_topic_score_gemma":0.001569208,"domain_scores_codex":[0.9997289,0.00005293148,0.00005422461,0.00005638172,0.00005776392,0.0000497333],"domain_scores_gemma":[0.9992076,0.0001817483,0.0003823587,0.00005151186,0.00003630324,0.0001405073],"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":[0.0004593339,0.00006543157,0.0005982947,0.00007471124,0.00003420008,0.004380534,0.00005342749,0.0002972178,0.99216,0.0002967094,0.0002445364,0.001335559],"study_design_scores_gemma":[0.0001870556,0.0003687799,0.02318066,0.00002849168,0.0001079797,0.01959066,0.0001890766,0.002041168,0.9471622,0.0002941894,0.006809763,0.00003998369],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932962,0.0007972096,0.002192323,0.0002621883,0.0001232281,0.0000428593,0.001387212,0.0001697467,0.001729029],"genre_scores_gemma":[0.993594,0.0003475356,0.001665778,0.000110103,0.00003493129,0.00003036686,0.0007158731,0.00009177609,0.003409592],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004246925,"threshold_uncertainty_score":0.01420736,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009378116621447292,"score_gpt":0.2825370772417095,"score_spread":0.2731589606202622,"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."}}