{"id":"W3166727665","doi":"10.1101/2021.06.04.447086","title":"Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Grousbeck Family Foundation; National Eye Institute; York University; Montana State University","keywords":"RNA splicing; Retinal degeneration; Exon; Biology; Familial dysautonomia; Retinal ganglion cell; Phenotype; Retinal; Humanized mouse; Dysautonomia; Neuroscience; Cell biology; Retina; Genetics; Gene; Disease; Medicine; Pathology; In vivo","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003931393,0.0006098895,0.000824984,0.0003591117,0.000103751,0.0001313298,0.000648959,0.0005100933,0.00001640544],"category_scores_gemma":[0.001221819,0.0006846976,0.0001463793,0.0006461234,0.0003603094,0.0002258348,0.0008939653,0.00143738,0.000008191889],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001599351,"about_ca_system_score_gemma":0.0006278145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004988721,"about_ca_topic_score_gemma":0.000004336296,"domain_scores_codex":[0.995689,0.0006342227,0.0007638691,0.001815831,0.000445787,0.0006513158],"domain_scores_gemma":[0.9979685,0.0002251676,0.0004336605,0.000909704,0.0002295894,0.0002333828],"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":[0.0001690529,0.0003622209,0.001848254,0.0003192608,0.000007237721,0.000354504,0.0000494413,0.004728393,0.9919866,0.0001648145,0.0000097877,4.445214e-7],"study_design_scores_gemma":[0.001230526,0.0002172957,0.01903506,0.0001107385,0.00004245717,6.574653e-8,0.000006269024,0.05552419,0.9231382,0.00000993813,0.000008069117,0.0006771992],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977961,0.0001297499,0.0003670423,0.00007933438,0.0003759563,0.0008304221,0.000188865,0.0002073152,0.00002527645],"genre_scores_gemma":[0.9977273,0.0002791521,0.001355978,0.0003209309,0.00007982463,0.0001088428,1.987696e-7,0.000123244,0.000004522976],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0688484,"threshold_uncertainty_score":0.9995604,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01921232976305636,"score_gpt":0.2127434521896991,"score_spread":0.1935311224266427,"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."}}