{"id":"W4211137489","doi":"10.1186/s40478-022-01314-x","title":"A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics","year":2022,"lang":"en","type":"article","venue":"Acta Neuropathologica Communications","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Fonds de Recherche du Québec - Santé; Fondation Brain Canada; Natural Sciences and Engineering Research Council of Canada; Alzheimer Society; Agence Nationale de la Recherche; Alzheimer's Association","keywords":"Haploinsufficiency; Frontotemporal lobar degeneration; Frontotemporal dementia; C9orf72; Biology; Genetics; Neurodegeneration; Exome sequencing; Mutation; Pathology; Dementia; Neuroscience; Gene; Allele; Medicine; Phenotype; Trinucleotide repeat expansion; Disease","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006952127,0.0001743878,0.0002911072,0.0004725909,0.0003706256,0.00004801166,0.0006758153,0.00006097857,0.00002742543],"category_scores_gemma":[0.0009869585,0.0001710515,0.000053785,0.00113037,0.0002438775,0.0001245598,0.001178748,0.001138335,0.00000685291],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000391244,"about_ca_system_score_gemma":0.0001218764,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003050374,"about_ca_topic_score_gemma":0.0004488127,"domain_scores_codex":[0.9968031,0.001268223,0.0006486108,0.0004730533,0.0003769058,0.0004300987],"domain_scores_gemma":[0.9978135,0.0003801132,0.0001800425,0.001422375,0.00007084614,0.0001331828],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.005920564,0.01877054,0.2782727,0.0002630743,0.00004823792,0.01320272,0.03506691,0.004541119,0.5886777,0.003979361,0.0004797097,0.05077736],"study_design_scores_gemma":[0.002311315,0.001154919,0.9581488,0.00004546253,0.00001826085,0.001312257,0.0007201765,0.03538238,0.00003235443,0.0003450158,0.0003534427,0.0001756627],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9878644,0.0001785399,0.00001867049,0.00991677,0.00005960988,0.001050486,0.00007445968,0.00007427366,0.0007628221],"genre_scores_gemma":[0.9971859,0.0005338037,0.000788859,0.0007592578,0.000007608764,0.0003796227,0.0002347636,0.00002877029,0.00008142953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6798761,"threshold_uncertainty_score":0.697528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03701393488398421,"score_gpt":0.2950048319122106,"score_spread":0.2579908970282264,"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."}}