{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00019089,0.0006541147,0.000396312,0.0008374529,0.0002425266,0.0003086878,0.000380201,0.0006736696,0.002258515],"category_scores_gemma":[0.0001348923,0.0002913323,0.0004026453,0.0001939691,0.0004602774,0.0001781221,0.0003050917,0.0009933274,0.0006272419],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002983948,"about_ca_system_score_gemma":0.0003200486,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009943201,"about_ca_topic_score_gemma":0.002483123,"domain_scores_codex":[0.9997454,0.00002858462,0.00003679057,0.00007451202,0.00006880302,0.00004591914],"domain_scores_gemma":[0.999738,0.000032656,0.0001061479,0.00001785896,0.00001506047,0.00009023966],"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":[0.00005236153,0.00002072584,0.0001560979,0.00002830477,0.000006331847,0.0001648112,0.00001917861,0.0001086188,0.9981313,0.0001862089,0.00005071082,0.001075357],"study_design_scores_gemma":[0.0000286669,0.0002770337,0.003557014,0.00001737704,0.00002765709,0.0008652407,0.0000452833,0.001352026,0.9897125,0.00009295287,0.004014178,0.00001011646],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859173,0.00111357,0.007965965,0.0002184536,0.00008022744,0.00006832962,0.001552083,0.0006301964,0.002453756],"genre_scores_gemma":[0.9791033,0.0009286867,0.007724799,0.00008293112,0.00001874879,0.00009560191,0.001094737,0.0001254214,0.0108257],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002258515,"threshold_uncertainty_score":0.007555485,"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."}}