Associated Papers
Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.
D'Erasmo L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
The Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome.
Fariña G et al.
Biochemistry and Biophysics Reports, 2025
What is the phenotype of heterozygous lipoprotein lipase deficiency?
Hegele RA
Current Opinion in Lipidology, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
Elevated plasma triglycerides increase the risk of psoriasis: a cohort and Mendelian randomization study.
Greve AM et al.
The British Journal of Dermatology, 2024
Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.
Dagli-Hernandez C et al.
Pharmacogenetics and Genomics, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Correlation analysis of hypertension, traditional Chinese medicine constitution, and LPL gene polymorphism in the elderly in communities in Shanghai.
Tao Y et al.
Technology and Health Care : Official Journal of the European Society for Engineering and Medicine, 2024
The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update.
Dabravolski SA et al.
Sage Open Medicine, 2024
Effect of genetic variations in drug transporters, metabolizing enzyme and regulatory genes on the development of HIV-associated lipodystrophy.
Shyamveer et al.
The Journal of Gene Medicine, 2023
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Rosenson RS et al.
Nature Medicine, 2023
Genetic Mimicry Analysis Reveals the Specific Lipases Targeted by the ANGPTL3-ANGPTL8 Complex and ANGPTL4.
Landfors F et al.
Journal of Lipid Research, 2023
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.
Abedi AH et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2023
A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia.
Vasiluev PA et al.
Genes, 2022
Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
Rutkowska L et al.
Genes, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.
Taghizadeh E et al.
Biochemical Genetics, 2022
LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.
Perrone B et al.
Journal of Translational Medicine, 2022
The Genetic Spectrum of Familial Hypertriglyceridemia in Oman.
Al-Waili K et al.
Frontiers in Genetics, 2022
Triglycerides and remnant cholesterol associated with risk of aortic valve stenosis: Mendelian randomization in the Copenhagen General Population Study.
Kaltoft M et al.
European Heart Journal, 2020
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
Li XY et al.
Lipids in Health and Disease, 2020
A novel variant in LPL gene is associated with familial combined hyperlipidemia.
Taghizadeh E et al.
Biofactors (oxford, England), 2020
Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia.
Dron JS et al.
Journal of Lipid Research, 2019
Genomic insights into the causes of type 2 diabetes.
Langenberg C et al.
Lancet (london, England), 2018
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia.
Marmontel O et al.
Atherosclerosis, 2017
Genetics of Triglycerides and the Risk of Atherosclerosis.
Dron JS et al.
Current Atherosclerosis Reports, 2017
Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.
Retterstøl K et al.
Lipids in Health and Disease, 2017
Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.
Lotta LA et al.
Nature Genetics, 2017
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans.
Larifla L et al.
The Canadian Journal of Cardiology, 2016
Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.
Madan V et al.
Leukemia, 2016
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir A et al.
Nature Genetics, 2016
Genetics: Polymorphisms in ANGPTL4 link triglycerides with CAD.
Lim GB
Nature Reviews. Cardiology, 2016
Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.
Lamiquiz-Moneo I et al.
Lipids in Health and Disease, 2016
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.
Stitziel NO et al.
The New England Journal of Medicine, 2016
Genetics of Lipid and Lipoprotein Disorders and Traits.
Dron JS et al.
Current Genetic Medicine Reports, 2016
Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach.
Minicocci I et al.
Atherosclerosis, 2015
Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels.
Pirim D et al.
European Journal of Human Genetics : Ejhg, 2015
Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspects.
Montali A et al.
Plos One, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
Martín-Campos JM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP et al.
Journal of Internal Medicine, 2012
Genetic screening of the LPL gene in hypertriglyceridaemic patients.
Wright WT et al.
Atherosclerosis, 2008
Common mutations of the lipoprotein lipase gene and their clinical significance.
Gehrisch S
Current Atherosclerosis Reports, 1999
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
Rodrigues R et al.
Journal of Clinical Lipidology, 0