{"id":"W4409093118","doi":"10.26508/lsa.202402921","title":"The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation","year":2025,"lang":"en","type":"article","venue":"Life Science Alliance","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research; Alberta Children's Hospital Research Institute; Canada Foundation for Innovation; Hotchkiss Brain Institute, University of Calgary","keywords":"MFN2; Myopathy; Phenotype; Inflammation; Biology; Mitochondrial DNA; Genetics; Pathology; mitochondrial fusion; Medicine; Immunology; Gene","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":[0.0008827623,0.0001201157,0.0001116052,0.0000536112,0.0005032879,0.00009138705,0.0005106177,0.0001037083,0.00001843776],"category_scores_gemma":[0.003538592,0.00009231714,0.00003868046,0.0007634539,0.0001912425,0.00001023312,0.0001566534,0.0001024579,0.0001082858],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002178211,"about_ca_system_score_gemma":0.0003533178,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007298081,"about_ca_topic_score_gemma":0.00004184789,"domain_scores_codex":[0.9986653,0.0000702164,0.0002534551,0.0004720008,0.0001950595,0.0003439314],"domain_scores_gemma":[0.9989744,0.00006899659,0.00008777449,0.0004847936,0.0002385505,0.0001454512],"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":[0.00005802029,0.00001196472,0.00008218872,0.00000403688,0.000006420145,0.000001336846,0.00005260343,0.00004578745,0.9887093,0.008011536,0.002107044,0.0009097466],"study_design_scores_gemma":[0.001043538,0.0003462173,0.006327133,0.00007032323,0.00001584412,0.00001706141,0.0002256312,0.001322386,0.5265457,0.001454915,0.4622263,0.0004049989],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.627414,0.0005579996,0.3437508,0.01391726,0.006165438,0.001449288,0.00006181342,0.0001053665,0.006578051],"genre_scores_gemma":[0.9662396,0.0003126143,0.009623358,0.01135727,0.0006531589,0.0002186248,0.0000591718,0.00001828612,0.01151789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4621636,"threshold_uncertainty_score":0.4236281,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01188847989079136,"score_gpt":0.264381083203081,"score_spread":0.2524926033122897,"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."}}