{"id":"W1985988350","doi":"10.1073/pnas.0709312104","title":"An <i>Ryr1</i> <sup> <i>I4895T</i> </sup> mutation abolishes Ca <sup>2+</sup> release channel function and delays development in homozygous offspring of a mutant mouse line","year":2007,"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":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Heart, Lung, and Blood Institute; University of Waterloo; Canadian Institutes of Health Research; National Institutes of Health; Università degli Studi di Siena; Muscular Dystrophy Association","keywords":"RYR1; Myogenesis; Ryanodine receptor; Congenital myopathy; Skeletal muscle; Biology; Central core disease; Cell biology; Mutant; Mutation; Myocyte; Molecular biology; Internal medicine; Endocrinology; Chemistry; Genetics; Endoplasmic reticulum; Muscle biopsy; Medicine; 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":[0.001506468,0.0001331866,0.0001570094,0.0002458197,0.0001512927,0.00001890445,0.0002403417,0.0001636275,0.000003560716],"category_scores_gemma":[0.0002559402,0.000107989,0.00004743478,0.0004905043,0.0003084513,0.00008395555,0.00007726778,0.0001152777,3.908026e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003084231,"about_ca_system_score_gemma":0.00005989573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001970697,"about_ca_topic_score_gemma":0.000001346929,"domain_scores_codex":[0.9983534,0.00001146612,0.0005092746,0.0003267368,0.0006130025,0.0001861403],"domain_scores_gemma":[0.9991449,0.00002761183,0.0003623352,0.00001793077,0.0003864052,0.00006086651],"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":[0.0004124323,0.0002011725,0.003162468,0.0001391612,0.00003172142,7.388314e-8,0.001673278,0.07136565,0.9186934,0.001672279,0.0001118115,0.002536545],"study_design_scores_gemma":[0.0007343654,0.0002536566,0.01209021,0.00007844478,0.00001509351,0.00002563057,0.001847364,0.07177006,0.9111896,0.001450412,0.0003724558,0.0001726891],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988055,0.0001436413,0.0002522066,0.0002339043,0.0000211751,0.000218179,0.00001128919,0.000007926525,0.0003061911],"genre_scores_gemma":[0.9985886,0.0000534795,0.0009054515,0.0002235406,0.0001477824,0.00001117149,0.000006620422,0.000008146697,0.0000552135],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008927737,"threshold_uncertainty_score":0.4403663,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01843062601805605,"score_gpt":0.2602455092160297,"score_spread":0.2418148831979736,"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."}}