{"id":"W2978447867","doi":"10.1172/jci124120","title":"Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":193,"is_retracted":false,"has_abstract":true,"ca_institutions":"Portage College","funders":"NIH Clinical Center; National Institute of Neurological Disorders and Stroke; Cytokinetics; Genentech; Eunice Kennedy Shriver National Institute of Child Health and Human Development; PTC Therapeutics; Ionis Pharmaceuticals; Cure SMA; Biogen; AveXis; Spinal Muscular Atrophy Foundation; Pfizer; Johns Hopkins University","keywords":"Spinal muscular atrophy; SMA*; Medicine; Spinal cord; Motor neuron; Lumbar; Messenger RNA; Internal medicine; Disease; Bioinformatics; Andrology; Biology; Surgery; Gene; Genetics","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0005694697,0.0002375934,0.0002764487,0.0001862995,0.0001170102,0.0002382735,0.0001663465,0.0003336841,0.000760709],"category_scores_gemma":[0.0004724195,0.00007778479,0.0001661492,0.0001000293,0.0001804737,0.0002085165,0.0001271485,0.0002879534,0.0001847795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002855449,"about_ca_system_score_gemma":0.0002219048,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003224119,"about_ca_topic_score_gemma":0.000795388,"domain_scores_codex":[0.9998522,0.00006317659,0.00001551619,0.00002181507,0.0000318387,0.0000154392],"domain_scores_gemma":[0.9997886,0.00004609413,0.00008860684,0.00001234536,0.00003598033,0.00002848245],"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":[0.001417605,0.0001305934,0.03235797,0.0003837061,0.00003278641,0.0005746128,0.00007312362,0.000380499,0.9038904,0.0003095932,0.0004004804,0.06004875],"study_design_scores_gemma":[0.00006054727,0.006749763,0.5982791,0.0003330678,0.0002707172,0.00404929,0.0004097379,0.002528324,0.3667264,0.0006615979,0.01989802,0.00003333915],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9245884,0.06424145,0.006074736,0.0009373204,0.0001279037,0.00006203177,0.0002825573,0.00008156334,0.003604126],"genre_scores_gemma":[0.9759184,0.01712904,0.004607815,0.000221665,0.00007009687,0.00006385949,0.0002623403,0.00001410612,0.001712588],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.000760709,"threshold_uncertainty_score":0.003011644,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1184284335995054,"score_gpt":0.446388309202579,"score_spread":0.3279598756030736,"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."}}