{"id":"W4411682572","doi":"10.1016/j.gendis.2025.101738","title":"Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism","year":2025,"lang":"en","type":"article","venue":"Genes & Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"IONICS Mass Spectrometry (Canada)","funders":"Wetenschappelijk Fonds Willy Gepts, Universitair Ziekenhuis Brussel","keywords":"Mechanism (biology); Profiling (computer programming); Messenger RNA; Disease; Computational biology; Biology; Cell biology; Medicine; Genetics; Internal medicine; Gene; Computer science; Physics","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":[0.00009278539,0.0002932705,0.0002446983,0.0004131324,0.0001855225,0.0003821878,0.000120315,0.0003428759,0.001371903],"category_scores_gemma":[0.0002176712,0.0001220642,0.0002623056,0.0003099514,0.0002600587,0.0001101247,0.0001052166,0.0003608693,0.0002278101],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002242709,"about_ca_system_score_gemma":0.0001279151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009402072,"about_ca_topic_score_gemma":0.0009576752,"domain_scores_codex":[0.9999062,0.00001302087,0.000009031291,0.00003073043,0.00001741111,0.00002355456],"domain_scores_gemma":[0.9999095,0.000025463,0.00002030352,0.000008543046,0.00001318228,0.00002294912],"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":[0.0007161786,0.00001558092,0.01331879,0.00002889327,0.00001979271,0.0009469182,0.00005163752,0.00005866059,0.9829172,0.00006991222,0.0000765255,0.001779801],"study_design_scores_gemma":[0.00003184959,0.0003999795,0.5310709,0.00001856927,0.0001091164,0.004803228,0.0004278444,0.001147598,0.4599397,0.0003682427,0.001663311,0.00001962103],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962054,0.0006327567,0.001417319,0.0001334179,0.00002590423,0.00001029364,0.001064937,0.00003065172,0.0004792779],"genre_scores_gemma":[0.9968088,0.0002969732,0.001178331,0.0001126851,0.00001609589,0.00001349003,0.0008133245,0.00001967034,0.0007405992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001371903,"threshold_uncertainty_score":0.004589438,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01901350329989664,"score_gpt":0.2954688085300573,"score_spread":0.2764553052301607,"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."}}