{"id":"W4387157849","doi":"10.1242/dmm.050200","title":"Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations","year":2023,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Medical Research Council; Ministerio de Ciencia e Innovación; Motor Neurone Disease Association; Consejería de Educación, Juventud y Deporte, Comunidad de Madrid; Comunidad de Madrid","keywords":"Biology; Gliosis; Phenotype; Mutation; Frontotemporal dementia; Amyotrophic lateral sclerosis; Transcriptome; Gene; Genetics; Neuroscience; Cell biology; Pathology; Dementia; Disease; Gene expression; Medicine","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":[0.0001294654,0.0006070759,0.0002749811,0.000535012,0.0001589502,0.0001650829,0.0001666181,0.0003388195,0.0009352499],"category_scores_gemma":[0.0001513318,0.00016654,0.0002053019,0.0002378121,0.0006167335,0.0001034939,0.0004126903,0.0003079018,0.0002176728],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002379409,"about_ca_system_score_gemma":0.0002269341,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005861062,"about_ca_topic_score_gemma":0.001612224,"domain_scores_codex":[0.9998384,0.00002019674,0.00002379771,0.00004543312,0.00004848042,0.00002360139],"domain_scores_gemma":[0.9998413,0.00002979293,0.00006763444,0.00001502927,0.000006146648,0.00004009742],"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":[0.0002032945,0.00004182411,0.001923451,0.00003438616,0.00001823981,0.002887649,0.0000342332,0.0001835588,0.9926558,0.0001488814,0.0000581541,0.001810618],"study_design_scores_gemma":[0.0001314305,0.001684388,0.1331336,0.00004477522,0.0001467058,0.02737905,0.0003440902,0.003498865,0.8298315,0.0007031315,0.003053239,0.00004913841],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982305,0.0001696077,0.0009320058,0.00002966734,0.000006023826,0.000009225489,0.0002030326,0.00004302254,0.0003768543],"genre_scores_gemma":[0.9978389,0.0002235862,0.0009546439,0.00003601965,0.000003668413,0.00001466962,0.0002895902,0.00001893234,0.0006200309],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009352499,"threshold_uncertainty_score":0.003128767,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0390957451120259,"score_gpt":0.2780497166913815,"score_spread":0.2389539715793556,"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."}}