{"id":"W1964821040","doi":"10.1086/302968","title":"Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase","year":2000,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":72,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto","funders":"Medical Research Council","keywords":"Elastic fiber; Chemistry; Tropoelastin; Nonsense mutation; Fibroblast; Missense mutation; Mutation; Gene; Extracellular matrix; Molecular biology; Cell biology; Biology; Biochemistry; Anatomy","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":[0.0001444095,0.0004646635,0.0002106072,0.0004803375,0.0003464109,0.0003305578,0.0001562445,0.0003316073,0.001870341],"category_scores_gemma":[0.0004421866,0.0002024583,0.000257455,0.0002977109,0.0002254956,0.0001407524,0.0002356884,0.0002959385,0.0006444686],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009870924,"about_ca_system_score_gemma":0.00009130504,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001207242,"about_ca_topic_score_gemma":0.0008155024,"domain_scores_codex":[0.9998837,0.00001830527,0.00002017992,0.00002509624,0.00003026826,0.00002256344],"domain_scores_gemma":[0.9997875,0.00005662461,0.00004170143,0.00003977714,0.00002870827,0.00004564709],"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":[0.0009123035,0.00004734582,0.01250274,0.00003912258,0.00004248085,0.00553178,0.0002817471,0.00006562829,0.9777938,0.0001503934,0.0001838279,0.002448873],"study_design_scores_gemma":[0.0003382155,0.0014498,0.3439633,0.00004223235,0.000250505,0.1071933,0.001497252,0.00176414,0.5342082,0.0005106724,0.008724473,0.00005787366],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981286,0.0003306695,0.0003106032,0.00004570532,0.00001497716,0.00000578242,0.0002561157,0.00001329715,0.0008942196],"genre_scores_gemma":[0.9985396,0.0001796869,0.0002115192,0.00001968943,0.000005627054,0.000006469964,0.0004782505,0.000005878566,0.0005533102],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001870341,"threshold_uncertainty_score":0.006256878,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01112276322199211,"score_gpt":0.2746532713920863,"score_spread":0.2635305081700942,"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."}}