Associated Papers
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes.
Yilmaz-Aydogan H et al.
Diabetes Research and Clinical Practice, 2024
Genetic basis of hypertriglyceridemia.
Ariza Corbo MJ et al.
Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Elevated plasma triglycerides increase the risk of psoriasis: a cohort and Mendelian randomization study.
Greve AM et al.
The British Journal of Dermatology, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Universal genome-wide association studies: Powerful joint ancestry and association testing.
Shriner D et al.
Hgg Advances, 2023
rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.
Clark JSC et al.
Scientific Reports, 2023
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
Zhang G et al.
Lipids in Health and Disease, 2023
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis.
Fujita S et al.
Endocrine Journal, 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
Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.
Alnouri F et al.
Current Vascular Pharmacology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.
Matsunaga A et al.
Journal of Atherosclerosis and Thrombosis, 2020
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M et al.
Nature Genetics, 2020
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 lipase fusion feasts on fat.
Ruppert PMM et al.
The Journal of Biological Chemistry, 2020
The influence of rare variants in circulating metabolic biomarkers.
Riveros-Mckay F et al.
Plos Genetics, 2020
Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.
Alnouri F et al.
Global Heart, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
A novel variant in LPL gene is associated with familial combined hyperlipidemia.
Taghizadeh E et al.
Biofactors (oxford, England), 2020
Metabolites downstream of predicted loss-of-function variants inform relationship to disease.
Li M et al.
Molecular Genetics and Metabolism, 2019
Structure of lipoprotein lipase in complex with GPIHBP1.
Arora R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.
Chu G et al.
Cancer Medicine, 2019
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin D et al.
Nature Genetics, 2018
Progress in defining the genetic contribution to type 2 diabetes susceptibility.
Morris AP
Current Opinion in Genetics & Development, 2018
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.
Emdin CA et al.
Nature Communications, 2018
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A et al.
Nature Genetics, 2018
Genetic polymorphisms offer insight into the causal role of microRNA in coronary artery disease.
Borghini A et al.
Atherosclerosis, 2018
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.
Lee CJ et al.
Yonsei Medical Journal, 2018
Exome-wide association study of plasma lipids in >300,000 individuals.
Liu DJ et al.
Nature Genetics, 2017
Population-based Study of Risk Polymorphisms Associated with Vascular Disorders and Dementia.
Teijido Ó et al.
Current Genomics, 2017
Genetics of Triglycerides and the Risk of Atherosclerosis.
Dron JS et al.
Current Atherosclerosis Reports, 2017
The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang.
Yue YH et al.
Lipids in Health and Disease, 2017
Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies.
Yamada Y et al.
Oncotarget, 2017