{"id":"W2626683207","doi":"10.1038/s41598-017-03850-2","title":"LNA/DNA mixmer-based antisense oligonucleotides correct alternative splicing of the SMN2 gene and restore SMN protein expression in type 1 SMA fibroblasts","year":2017,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"Muscular Dystrophy Canada; University of Alberta","funders":"Faculty of Medicine and Dentistry, University of Alberta; Muscular Dystrophy Canada; University of Alberta; Canadian Institutes of Health Research; Women and Children's Health Research Institute; Children's Health Research Institute","keywords":"SMN1; Locked nucleic acid; Spinal muscular atrophy; Exon; SMA*; Oligonucleotide; Biology; Molecular biology; Morpholino; Exon skipping; Alternative splicing; RNA splicing; Sense (electronics); Gene; Genetics; RNA; Gene knockdown; Chemistry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001660313,0.0005412251,0.0002617335,0.0002667166,0.0001185116,0.0001930528,0.0001805131,0.0003278586,0.0008796121],"category_scores_gemma":[0.0001299762,0.000171116,0.0001987116,0.0000940559,0.000198947,0.0001962017,0.0001653889,0.0004053442,0.0003033954],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002382794,"about_ca_system_score_gemma":0.0002725332,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003635544,"about_ca_topic_score_gemma":0.0009382585,"domain_scores_codex":[0.9998636,0.00002332265,0.00001654262,0.00003882761,0.00004054372,0.00001712947],"domain_scores_gemma":[0.9999356,0.00001199412,0.00002487302,0.000005624136,0.000009599896,0.000012183],"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":[0.00002875761,0.00001543086,0.0000277013,0.00002763607,0.000002707655,0.00001992246,0.000005909579,0.00005020849,0.998379,0.00006788,0.00002058325,0.001354181],"study_design_scores_gemma":[0.00001647872,0.0002934061,0.0003364794,0.000004081158,0.00001330606,0.0001218071,0.000006456163,0.0005365922,0.9964895,0.00002197851,0.002156034,0.000003787207],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9704939,0.003619153,0.02097936,0.0001440012,0.0001646501,0.0002073206,0.0003662074,0.0003593281,0.003666],"genre_scores_gemma":[0.9609699,0.002695583,0.02823431,0.00016644,0.00003726289,0.0002688252,0.0006592934,0.00006573475,0.0069027],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008796121,"threshold_uncertainty_score":0.002942622,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02915998514946055,"score_gpt":0.3031587765506061,"score_spread":0.2739987914011455,"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."}}