{"id":"W2755839104","doi":"10.1172/jci.insight.95918","title":"Functional correction of dystrophin actin binding domain mutations by genome editing","year":2017,"lang":"en","type":"article","venue":"JCI Insight","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":103,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Parent Project Muscular Dystrophy; Bundesministerium für Bildung und Forschung; School of Medicine, New York University; National Institutes of Health; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Deutsches Zentrum für Herz-Kreislaufforschung; Welch Foundation; Deutsche Forschungsgemeinschaft; York University","keywords":"Dystrophin; Duchenne muscular dystrophy; Exon; Biology; Muscular dystrophy; Genome editing; Induced pluripotent stem cell; Mutation; Genetics; Utrophin; Exon skipping; Cell biology; CRISPR; Gene; Alternative splicing; Embryonic stem cell","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002731094,0.0003982294,0.0002859781,0.0002548161,0.0001551685,0.0003376903,0.0003003296,0.0004079321,0.001110097],"category_scores_gemma":[0.0002277839,0.0001146985,0.0002757569,0.0001029913,0.0002970879,0.000137623,0.0002897829,0.0005003106,0.0002131746],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002208735,"about_ca_system_score_gemma":0.0002546403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004049122,"about_ca_topic_score_gemma":0.0007554776,"domain_scores_codex":[0.9996984,0.00005332639,0.00003782525,0.00006443749,0.0001012549,0.00004478344],"domain_scores_gemma":[0.9998586,0.00004385899,0.00004591103,0.00002075584,0.00001184696,0.0000190499],"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":[0.00002445535,0.0000169846,0.00009089898,0.00002589731,0.000006543896,0.00006311032,0.00001449033,0.0002522007,0.9971703,0.0002584135,0.00002717208,0.002049602],"study_design_scores_gemma":[0.00001372712,0.0001360688,0.001376986,0.000006844564,0.00002346617,0.0003407513,0.00001944146,0.001938381,0.9927762,0.00009645237,0.003264383,0.000007441333],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9643273,0.0009680714,0.02979078,0.0001632077,0.0001076443,0.0001022552,0.0005708207,0.0004496098,0.003520311],"genre_scores_gemma":[0.9797918,0.0007825736,0.01668101,0.00007562655,0.00001001121,0.00004774604,0.0004600256,0.00009826813,0.002052934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001110097,"threshold_uncertainty_score":0.003713667,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009582990360213232,"score_gpt":0.2703424259421202,"score_spread":0.260759435581907,"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."}}