{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002090441,0.0008516236,0.0005160164,0.001332918,0.000401249,0.0004961885,0.0002522103,0.0007708189,0.004224517],"category_scores_gemma":[0.0003160932,0.0002682518,0.0006575408,0.0009298628,0.000481543,0.0002564107,0.0004698645,0.0007073888,0.0008892429],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002776027,"about_ca_system_score_gemma":0.0002882371,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009383713,"about_ca_topic_score_gemma":0.0007304811,"domain_scores_codex":[0.999743,0.00003084738,0.00003535199,0.00009280847,0.0000625434,0.00003535613],"domain_scores_gemma":[0.9996358,0.00004322831,0.0001763507,0.00003539805,0.00002807356,0.0000809979],"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":[0.002074733,0.0001207347,0.01248996,0.0003436594,0.0002053419,0.007817953,0.000205548,0.0001927299,0.9636638,0.001261666,0.001421856,0.01020225],"study_design_scores_gemma":[0.0005854462,0.001246062,0.3323225,0.0003563194,0.001676887,0.1102018,0.0007801777,0.006467681,0.4622452,0.00424532,0.07967609,0.0001966741],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9771981,0.003540299,0.01057139,0.0006157288,0.000182117,0.00004745245,0.00419756,0.0007665468,0.002880974],"genre_scores_gemma":[0.988214,0.00220688,0.003036317,0.0003108935,0.00006144884,0.00007432714,0.002364325,0.0001809499,0.003550825],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004224517,"threshold_uncertainty_score":0.01413238,"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."}}