{"id":"W2948271538","doi":"10.3389/fphys.2019.00688","title":"Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans","year":2019,"lang":"en","type":"article","venue":"Frontiers in Physiology","topic":"Amino Acid Enzymes and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Moorfields Eye Hospital NHS Foundation Trust; Hartmann Müller-Stiftung für Medizinische Forschung; National Institute for Health and Care Research; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Institute for Research in Biomedicine; Centres de Recerca de Catalunya; Ministerio de Ciencia e Innovación; Wellcome Trust; Generalitat de Catalunya; National Science Foundation","keywords":"Amino acid; Antiporter; Biology; Transporter; Efflux; Amino acid transporter; Uniporter; Mutation; Internal medicine; Gene; Genetics; Endocrinology; Biochemistry; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007024954,0.0001440191,0.0002559425,0.00006740225,0.00001975658,0.000004254779,0.00009290858,0.0001909061,0.00003872952],"category_scores_gemma":[0.000006686403,0.0001251307,0.00003695302,0.00006736016,0.00009318209,0.000007583406,0.00002439987,0.0001371008,0.000003965485],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001573186,"about_ca_system_score_gemma":0.00003293869,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003857888,"about_ca_topic_score_gemma":0.0001148186,"domain_scores_codex":[0.9991333,0.00004083553,0.000149938,0.0003634593,0.00005981453,0.0002526592],"domain_scores_gemma":[0.9996961,0.000004141279,0.00005374814,0.000187981,0.00002068855,0.00003730116],"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":[0.0003359827,0.0001141026,0.2727965,0.00001499657,0.00008888025,0.000005314294,0.000254427,0.00006729763,0.7215377,0.00004389655,0.004152359,0.0005885931],"study_design_scores_gemma":[0.002550476,0.0003468157,0.9306954,0.00001593714,0.00001755363,0.000003916972,0.0002078946,0.0001073779,0.05339343,0.0001745584,0.01217381,0.0003127986],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983621,0.0007313159,0.0001591963,0.00004640281,0.0002482625,0.0001385997,0.00004391817,0.000005748715,0.0002644142],"genre_scores_gemma":[0.996653,0.00022382,0.0002679047,0.0005803776,0.00006284183,0.00001597534,0.0003495546,0.00001716638,0.001829366],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6681443,"threshold_uncertainty_score":0.5102683,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004227238990108349,"score_gpt":0.1925575423141267,"score_spread":0.1883303033240183,"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."}}