{"id":"W4416537056","doi":"10.1038/s41598-025-26775-7","title":"Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells","year":2025,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"U.S. Department of Defense","keywords":"PKD1; Mutant; Mutation; Gene; Translation (biology); Frameshift mutation; Germline; Allele; Stop codon; HEK 293 cells","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":[0.0001777916,0.000408784,0.0004698986,0.0002384355,0.0001726204,0.0002107159,0.0002879347,0.0003538624,0.001019962],"category_scores_gemma":[0.0001114925,0.00008368743,0.0002261923,0.0001434102,0.000222703,0.0001735666,0.0001724803,0.0005940362,0.0002972446],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001993585,"about_ca_system_score_gemma":0.000249495,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003985891,"about_ca_topic_score_gemma":0.0006991516,"domain_scores_codex":[0.9998534,0.00002919153,0.00002082384,0.0000253154,0.00004593334,0.00002540777],"domain_scores_gemma":[0.9998903,0.00002326308,0.00002868268,0.00001698036,0.00001081693,0.00002984732],"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":[0.0001448838,0.0001302726,0.00008510551,0.00004577291,0.000004694908,0.00007994154,0.00001672873,0.00009235623,0.9971626,0.00009967032,0.00006465114,0.002073196],"study_design_scores_gemma":[0.00003573311,0.001042661,0.001393543,0.000006062519,0.00001173327,0.0002464351,0.00001472595,0.0004039655,0.994589,0.00002813536,0.002224049,0.000003971266],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942737,0.001661752,0.002176075,0.0001030824,0.00006352085,0.00005254024,0.0002706492,0.0001325986,0.00126593],"genre_scores_gemma":[0.992186,0.001758163,0.002342078,0.00006137997,0.00001487255,0.00005130758,0.0006760485,0.00003183713,0.002878237],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001019962,"threshold_uncertainty_score":0.003412068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01510964317430018,"score_gpt":0.2605819747899514,"score_spread":0.2454723316156512,"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."}}