{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006967894,0.00008257198,0.00007965448,0.00003461066,0.0002194671,0.00002994946,0.00009874805,0.00007826413,0.0000376202],"category_scores_gemma":[0.00007765034,0.00008523931,0.00005049809,0.00002607541,0.00004391065,0.000006202043,0.00005134121,0.00006672332,0.0000075837],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001285586,"about_ca_system_score_gemma":0.00002004784,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001827695,"about_ca_topic_score_gemma":0.00001289915,"domain_scores_codex":[0.9994852,0.00001064137,0.0001365711,0.0001625159,0.00008702851,0.0001180754],"domain_scores_gemma":[0.9995678,0.000007744298,0.0001122599,0.0002279462,0.00004531914,0.00003894636],"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":[0.0000114352,0.00001963656,0.0005796988,0.000007601956,0.00002428029,8.855346e-7,0.00005582367,0.0006685024,0.9953572,0.00001515892,0.002397196,0.0008626329],"study_design_scores_gemma":[0.0003959843,0.0001008614,0.01083879,0.00001346395,0.00001459549,0.00001288954,0.0001518902,0.0002274399,0.9259279,0.00001996519,0.06215522,0.000140975],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9697929,0.000176968,0.02491197,0.00008296682,0.001101802,0.00007175446,0.00002664747,0.00001006455,0.003824898],"genre_scores_gemma":[0.9973395,0.00002196585,0.0005686398,0.00001168153,0.0005101487,0.000009792187,0.0001943454,0.00001343637,0.001330496],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06942922,"threshold_uncertainty_score":0.3475958,"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."}}