{"id":"W4387405672","doi":"10.3390/ijms241914926","title":"Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients’ iPSC-Derived Models","year":2023,"lang":"en","type":"article","venue":"International Journal of Molecular Sciences","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University; Health Canada; Montreal Neurological Institute and Hospital","funders":"Djavad Mowafaghian Foundation; Canada First Research Excellence Fund; McGill University","keywords":"FMR1; Fragile X syndrome; Biology; Induced pluripotent stem cell; Forebrain; Cell biology; Neuroscience; Neural stem cell; Gene; Genetics; Stem cell; Fragile x; Embryonic stem cell","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":[0.000151441,0.0006847095,0.0004008242,0.0007735669,0.0001962938,0.0002772702,0.0002503392,0.0005174897,0.00235371],"category_scores_gemma":[0.0001549064,0.000162874,0.0004275573,0.0002022341,0.0004539291,0.0001788408,0.0002997912,0.0007751051,0.0003965294],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002451819,"about_ca_system_score_gemma":0.0001709065,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000538031,"about_ca_topic_score_gemma":0.0006678097,"domain_scores_codex":[0.999765,0.00001990746,0.00003493889,0.0000810334,0.00006621434,0.00003291646],"domain_scores_gemma":[0.9998692,0.00002108976,0.00005687224,0.00001580846,0.000006983816,0.00002996016],"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":[0.0001431812,0.00006001324,0.0004166253,0.00003905348,0.00001288508,0.0005668725,0.00004057815,0.000141462,0.9971185,0.0001518795,0.00005324713,0.001255782],"study_design_scores_gemma":[0.00004564466,0.0006438648,0.0210274,0.00003249232,0.0000730627,0.005061704,0.0001217496,0.001441413,0.9685941,0.0002136884,0.002726221,0.00001866308],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932582,0.0005572781,0.003471317,0.00006635849,0.00003256769,0.0000387636,0.001576216,0.0001349906,0.0008643714],"genre_scores_gemma":[0.9914898,0.0008071184,0.003012707,0.00005510266,0.000009651411,0.0001548646,0.001656936,0.00005235077,0.002761448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00235371,"threshold_uncertainty_score":0.007873893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01848507269367215,"score_gpt":0.2548425895173488,"score_spread":0.2363575168236766,"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."}}