{"id":"W2004736938","doi":"10.1073/pnas.0912126106","title":"Ca <sup>2+</sup> dysregulation in <i> Ryr1 <sup>I4895T/wt</sup> </i> mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods","year":2009,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; University of Waterloo; University of Toronto","funders":"Canadian Institutes of Health Research; Howard Hughes Medical Institute","keywords":"Nemaline myopathy; RYR1; Congenital myopathy; Central core disease; Myofibril; Skeletal muscle; Biology; Myopathy; Ryanodine receptor; Anatomy; Chemistry; Pathology; Molecular biology; Internal medicine; Cell biology; Endocrinology; Genetics; Medicine; Biopsy; Muscle biopsy","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":[0.0002256843,0.0007245927,0.0004297897,0.0006770816,0.0002292489,0.0005663346,0.0006123287,0.0007237007,0.002099503],"category_scores_gemma":[0.0001841029,0.0003710219,0.0004707806,0.0002825985,0.0006098555,0.0003924207,0.0003840055,0.0008814672,0.001418546],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000390819,"about_ca_system_score_gemma":0.0001733407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007761465,"about_ca_topic_score_gemma":0.001070707,"domain_scores_codex":[0.9996076,0.00003924821,0.00008282848,0.0001317784,0.00008211333,0.00005643012],"domain_scores_gemma":[0.9993881,0.00004639101,0.0003382166,0.00005433443,0.00003267475,0.0001403378],"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":[0.0001127075,0.00001709608,0.0001983382,0.00002640811,0.00000780373,0.0001301547,0.00001123541,0.00006350214,0.9988386,0.0001012221,0.00005705067,0.0004358657],"study_design_scores_gemma":[0.00006579538,0.0002456504,0.01420546,0.00002817948,0.00006028604,0.001283473,0.00007873399,0.001725616,0.9794253,0.000168529,0.002695126,0.00001790592],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9885426,0.0009071656,0.004888448,0.0002017642,0.00005451383,0.00004655386,0.003270212,0.0004624939,0.001626239],"genre_scores_gemma":[0.9898706,0.0005418851,0.003646425,0.0001350821,0.0000223044,0.000091473,0.002164989,0.0002961403,0.00323106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002099503,"threshold_uncertainty_score":0.007023573,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01822622523754924,"score_gpt":0.2677715211982005,"score_spread":0.2495452959606513,"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."}}