{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003693985,0.0002806136,0.0003744167,0.0002236858,0.0001687391,0.0003658818,0.0001576179,0.0003501399,0.001613589],"category_scores_gemma":[0.0003141782,0.0001173668,0.0002709939,0.0001633576,0.0001502857,0.0001158979,0.0001309572,0.0004921251,0.0005187955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001511947,"about_ca_system_score_gemma":0.00008945241,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002433277,"about_ca_topic_score_gemma":0.0002247299,"domain_scores_codex":[0.9996257,0.0001077859,0.00003864801,0.00007093721,0.0001081141,0.00004883047],"domain_scores_gemma":[0.9998525,0.00004636708,0.00002000269,0.0000200174,0.00003120495,0.00002984164],"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":[0.002506367,0.000549231,0.01221918,0.00008071791,0.00005821116,0.0003340585,0.0001686001,0.0001831705,0.975754,0.00004754329,0.0001309679,0.00796803],"study_design_scores_gemma":[0.0007096552,0.02106023,0.14061,0.00003235182,0.0003221815,0.005506729,0.0004290682,0.002240975,0.8245382,0.00009734797,0.004429614,0.00002373596],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981003,0.0005047789,0.0006926474,0.00002820065,0.00001054809,0.00003659472,0.0001628749,0.00001686576,0.0004471539],"genre_scores_gemma":[0.9977772,0.0001782882,0.0006510112,0.00007232303,0.00001062903,0.00007276566,0.0005428317,0.000007583794,0.0006874649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001613589,"threshold_uncertainty_score":0.005397975,"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."}}