{"id":"W2069566684","doi":"10.1002/humu.20429","title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","year":2006,"lang":"en","type":"review","venue":"Human Mutation","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":772,"is_retracted":false,"has_abstract":true,"ca_institutions":"Shriners Hospitals for Children - Canada","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Osteogenesis imperfecta; Mutation; Type I collagen; Biology; Integrin; Cartilage oligomeric matrix protein; Genetics; Fibril; Exon; Fibronectin; Matrix metalloproteinase; Collagen helix; Dentinogenesis imperfecta; Molecular biology; Extracellular matrix; Gene; Triple helix; Anatomy; Medicine; Pathology; Endocrinology; Receptor","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005500342,0.0002587637,0.0005162468,0.0003808675,0.0002034107,0.00004627433,0.0001952443,0.0002429189,0.000005746213],"category_scores_gemma":[0.0003841566,0.0002087772,0.0001191018,0.0006505409,0.0002112654,0.000008665624,0.00003715514,0.00008360183,9.116262e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008002328,"about_ca_system_score_gemma":0.0004315732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001200458,"about_ca_topic_score_gemma":0.006189992,"domain_scores_codex":[0.9982257,0.0003620479,0.0005050607,0.0004721151,0.0001598149,0.0002752208],"domain_scores_gemma":[0.9987618,0.0004014866,0.0002561553,0.0002462532,0.0002999172,0.00003438954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004517373,0.006669288,0.01383409,0.1151849,0.004880747,0.0003665514,0.03919933,0.003164476,0.3933159,0.03550609,0.0099192,0.3734421],"study_design_scores_gemma":[0.03948957,0.03126101,0.01131022,0.0175706,0.007366371,0.001529901,0.06525323,0.001314484,0.02867098,0.01393045,0.7729189,0.009384264],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6175929,0.3625316,0.003342512,0.0001664077,0.00003910481,0.0150749,0.0009793101,0.00001436908,0.0002588888],"genre_scores_gemma":[0.8221092,0.1234703,0.004827163,0.00004335424,0.0002936358,0.01962769,0.02852256,0.0002810617,0.000824965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7629997,"threshold_uncertainty_score":0.8513685,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06423690732546167,"score_gpt":0.3818124485278679,"score_spread":0.3175755412024062,"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."}}