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
The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.
Cacabelos R et al.
Expert Opinion on Drug Metabolism & Toxicology, 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
Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.
Kalideen K et al.
Journal of Personalized Medicine, 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
Pharmacogenomics of response to statin treatment and susceptibility to statin-induced adverse drug reactions in Asians: a scoping review.
Yow HY et al.
Asian Biomedicine : Research, Reviews and News, 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
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
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Jin JL et al.
Ebiomedicine, 2018
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