{"id":"W2977398427","doi":"10.1161/atvbaha.119.313051","title":"Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity","year":2019,"lang":"en","type":"article","venue":"Arteriosclerosis Thrombosis and Vascular Biology","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cégep de Chicoutimi; Université du Québec à Chicoutimi","funders":"Regeneron Pharmaceuticals; Massachusetts Institute of Technology; Alexion Pharmaceuticals; Esperion Therapeutics; Amgen","keywords":"LDL receptor; Familial hypercholesterolemia; Chinese hamster ovary cell; Internal medicine; Low-density lipoprotein; Endocrinology; PCSK9; Lipoprotein; Receptor; Medicine; Apolipoprotein B; Cholesterol; Biology","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":[0.0004998103,0.0002383045,0.001281924,0.0003912338,0.00003027526,0.000006646031,0.0001112044,0.0001552378,0.00004548053],"category_scores_gemma":[0.00008278443,0.0001501963,0.0002279152,0.0008155363,0.0001675671,0.00008244003,0.0001137148,0.0001277941,0.000003018834],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006113534,"about_ca_system_score_gemma":0.00005818216,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002039237,"about_ca_topic_score_gemma":0.000872912,"domain_scores_codex":[0.9980943,0.0004524831,0.0004698433,0.0004448036,0.0002697778,0.0002688112],"domain_scores_gemma":[0.9989188,0.0001743184,0.0002349505,0.0005100815,0.00009004196,0.00007184767],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004230147,0.0004841,0.8652965,0.0001095555,0.0006277178,5.001218e-8,0.0004637964,0.0000548628,0.1313119,0.00001110863,0.000003853519,0.001213527],"study_design_scores_gemma":[0.004854892,0.002961399,0.9821509,0.0001858066,0.0005875049,1.682385e-7,0.0001140026,0.00008864998,0.008905154,0.000003084987,0.00001051225,0.0001379931],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985897,0.00003004115,0.00004933861,0.00006969884,0.0001640232,0.001016094,0.00005970702,0.000006321692,0.00001510581],"genre_scores_gemma":[0.9995733,0.0001499485,0.00006387947,0.00007577497,0.00001483961,0.00005061506,0.00005627928,0.00001451903,7.882377e-7],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1224068,"threshold_uncertainty_score":0.6124827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01181872803468976,"score_gpt":0.2379123948954751,"score_spread":0.2260936668607853,"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."}}