{"id":"W4220704556","doi":"10.1016/j.omtn.2022.03.022","title":"CRISPR-Cas9 treatment partially restores amyloid-β 42/40 in human fibroblasts with the Alzheimer’s disease PSEN1 M146L mutation","year":2022,"lang":"en","type":"article","venue":"Molecular Therapy — Nucleic Acids","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Brain Institute; University of Toronto; University Health Network","funders":"National Institute of General Medical Sciences; National Institutes of Health; Åhlén-stiftelsen; Vetenskapsrådet; Alzheimerfonden; Massachusetts General Hospital; Gun och Bertil Stohnes Stiftelse; Hjärnfonden; National Institute on Aging; Deutsche Forschungsgemeinschaft; Stiftelsen för Gamla Tjänarinnor","keywords":"CRISPR; PSEN1; Disease; Mutation; Amyloid (mycology); Medicine; Dementia; Cancer research; Alzheimer's disease; Biology; Amyloid precursor protein; Genetics; Pathology; Gene","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":[0.0001433614,0.000283545,0.0001711656,0.00007015369,0.0002761838,0.00004479535,0.0002906582,0.00005791457,0.00007426569],"category_scores_gemma":[0.000006728935,0.0002194736,0.0001295377,0.0001793757,0.00008532174,0.000005317562,0.00009864496,0.0001343077,0.000004017696],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005551411,"about_ca_system_score_gemma":0.000081185,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007916587,"about_ca_topic_score_gemma":0.0001031825,"domain_scores_codex":[0.9985099,0.0001761289,0.0002124277,0.0004707255,0.0002819485,0.0003488421],"domain_scores_gemma":[0.9991637,0.0000102601,0.0000693041,0.0006108026,0.00003238589,0.0001135413],"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":[0.00101619,0.0003068652,0.002349543,0.000007988003,0.0002936548,0.0002550343,0.0007640088,0.0747701,0.9129558,0.0001248958,0.0006816025,0.006474294],"study_design_scores_gemma":[0.005658295,0.004733638,0.04713158,0.00002607006,0.0001719092,0.00007739767,0.0007751604,0.001365376,0.8413458,0.0002506789,0.09737329,0.001090738],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902547,0.004706833,0.003486538,0.0007330264,0.00007104677,0.0005352635,0.00002311214,0.00003245677,0.0001570044],"genre_scores_gemma":[0.9983492,0.0001277405,0.0002210814,0.0005112318,0.00008344998,0.0003096842,0.0001757612,0.00007272198,0.0001490992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09669169,"threshold_uncertainty_score":0.8949875,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01164431016907894,"score_gpt":0.2858149682671727,"score_spread":0.2741706580980937,"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."}}