{"id":"W2046733503","doi":"10.1093/hmg/ddm067","title":"COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid","year":2007,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Osteoarthritis Treatment and Mechanisms","field":"Medicine","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Biology; Nonsense mutation; Mutant; Endoplasmic reticulum; Chondrocyte; Haploinsufficiency; Wild type; Transgene; Molecular biology; Mutation; Cartilage; Missense mutation; Cell biology; Genetics; Gene; Anatomy; Phenotype","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":[0.0002546442,0.0001809736,0.0002382695,0.000183658,0.0001362021,0.00002343026,0.00003866617,0.0001121814,0.00001491047],"category_scores_gemma":[0.00004716682,0.0001452672,0.0000507426,0.0001263407,0.0001295219,0.00001720819,0.00002888203,0.0001957301,0.000004780432],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002352313,"about_ca_system_score_gemma":0.00001894031,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002335065,"about_ca_topic_score_gemma":0.0001365466,"domain_scores_codex":[0.9990281,0.00008616454,0.0002210583,0.0002470374,0.000204917,0.0002127528],"domain_scores_gemma":[0.999446,0.00009504354,0.00007251434,0.0002339506,0.00005495288,0.00009756691],"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":[0.0003921368,0.0001788182,0.009995486,0.00006940828,0.0001050322,0.0002914883,0.0007509666,0.00001610318,0.9786302,0.008459854,0.00001703412,0.001093506],"study_design_scores_gemma":[0.007363118,0.01601814,0.1131138,0.0002241563,0.0006670019,0.00007156692,0.0003103954,0.0000866173,0.8572971,0.00440625,0.00009971231,0.0003421152],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997646,0.0005592452,0.0002216503,0.00005176958,0.00004404823,0.0007669388,0.000005307154,0.00002088304,0.0006840997],"genre_scores_gemma":[0.9991221,0.00002530439,0.0004304277,0.0001633747,0.00002646996,0.00001670539,0.00004663744,0.00003203405,0.0001369324],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.121333,"threshold_uncertainty_score":0.5923827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01378295223837448,"score_gpt":0.2736443410642272,"score_spread":0.2598613888258527,"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."}}