{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001679606,0.0004193462,0.0005123219,0.0002107868,0.0001813235,0.0003325066,0.0002056779,0.000610252,0.001481587],"category_scores_gemma":[0.0002006968,0.0001509596,0.0003780282,0.0001027157,0.0001647206,0.0001188135,0.0001714786,0.0005985193,0.0007239797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001942522,"about_ca_system_score_gemma":0.0002523818,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002213143,"about_ca_topic_score_gemma":0.00193538,"domain_scores_codex":[0.9997926,0.00002218049,0.00003714051,0.00005490095,0.00005624578,0.00003685151],"domain_scores_gemma":[0.9999058,0.00002153672,0.00001906469,0.00001647224,0.00001324323,0.00002391428],"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":[0.00007361863,0.00004148443,0.00006928597,0.00004503891,0.000008917369,0.0001336646,0.00002352149,0.00009274052,0.9978437,0.00004506787,0.0001418916,0.001481031],"study_design_scores_gemma":[0.00002524558,0.0003159053,0.002190881,0.000009491382,0.00002863518,0.0004979035,0.0000324167,0.001472478,0.9903331,0.00004428194,0.005038171,0.00001145006],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865122,0.00152038,0.005950453,0.0002455502,0.0001739548,0.00008763574,0.001746467,0.0004686061,0.003294874],"genre_scores_gemma":[0.9885986,0.000654078,0.003298055,0.0001520756,0.00001114855,0.00007589467,0.001370335,0.00008272094,0.005757119],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002213143,"threshold_uncertainty_score":0.004956424,"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."}}