{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005613131,0.0001246092,0.0001589757,0.000162701,0.0001021105,0.0000193086,0.0002178746,0.0001360413,0.000004400163],"category_scores_gemma":[0.0002181557,0.00008824087,0.00004327299,0.0004297802,0.0004717978,0.0001026845,0.00005247158,0.00008488193,2.12439e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001855705,"about_ca_system_score_gemma":0.00004545168,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007376811,"about_ca_topic_score_gemma":5.071603e-7,"domain_scores_codex":[0.9986238,0.00001393401,0.0003932379,0.0002496949,0.0005796097,0.0001397339],"domain_scores_gemma":[0.9990233,0.00002690191,0.0004627064,0.00001563284,0.0004360809,0.00003534486],"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":[0.00155598,0.0005310603,0.03211165,0.0004157663,0.00008362078,1.41386e-7,0.003974873,0.0656234,0.877236,0.01109683,0.002633641,0.00473704],"study_design_scores_gemma":[0.001754844,0.001105311,0.08430117,0.0002591054,0.00004725151,0.00008274458,0.002226018,0.1374007,0.7686561,0.003325563,0.0005416488,0.0002995715],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997749,0.0003643812,0.00001829273,0.0010517,0.000009709211,0.0003066176,0.00002490371,0.000005003938,0.0004703503],"genre_scores_gemma":[0.9987811,0.00004927909,0.0007555651,0.0002038018,0.0001122561,0.00001065631,0.00001182941,0.00000455915,0.00007095719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1085799,"threshold_uncertainty_score":0.3598358,"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."}}