{"id":"W4309370218","doi":"10.1016/j.jbc.2022.102728","title":"rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice","year":2022,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Simons Foundation","keywords":"Haploinsufficiency; Adeno-associated virus; Genetic enhancement; Allele; Biology; Internal medicine; Endocrinology; Cancer research; Medicine; Genetics; Gene; Vector (molecular biology); Recombinant DNA; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002902822,0.0001635678,0.0002225395,0.00003674881,0.00009047367,0.0000190054,0.0002318753,0.0001025653,0.00004394702],"category_scores_gemma":[0.0002050459,0.0001296126,0.000114733,0.0001339923,0.00008096566,0.000003913508,0.0001509807,0.0003874989,2.506492e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003548822,"about_ca_system_score_gemma":0.0001008234,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003902717,"about_ca_topic_score_gemma":5.99807e-7,"domain_scores_codex":[0.9990141,0.00007217572,0.0002737615,0.0002590043,0.0001552016,0.0002257813],"domain_scores_gemma":[0.9994984,0.0000386334,0.0001283214,0.0001285627,0.00005936075,0.0001467306],"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":[0.0006021686,0.0002131987,0.01535778,0.0000220614,0.00004215619,0.0001929842,0.00007627434,0.0008593813,0.980423,0.000001351925,0.001124526,0.001085061],"study_design_scores_gemma":[0.002007044,0.001716989,0.1977984,0.00004117945,0.00002497059,0.001978767,0.0006967824,0.0000685235,0.7796056,0.0001289285,0.01543447,0.000498301],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9805604,0.01872987,0.0001418017,0.0001889998,0.0001050014,0.00008229807,0.00001971413,0.000006599752,0.0001653012],"genre_scores_gemma":[0.9974844,0.001848094,0.0001590186,0.0001689207,0.0001073304,0.00001067213,0.00001327167,0.00001168549,0.0001965528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2008175,"threshold_uncertainty_score":0.5285448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00827864266332286,"score_gpt":0.2696822945850438,"score_spread":0.261403651921721,"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."}}