Associated Papers
Heterogeneous nature of severe hypertriglyceridemia in childhood.
Ariza MJ et al.
Journal of Clinical Lipidology, 2026
Case Report: Conventional therapy versus volanesorsen in two sisters with familial chylomicronemia syndrome.
Vega J et al.
Frontiers in Nutrition, 2026
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
Severe Familial Hypertriglyceridemia in a Child with Compound Heterozygous Pathogenic APOA5 Variants: A Case Report and Therapeutic Challenge.
Ilić N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Bashir B et al.
Genetics in Medicine Open, 2025
Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.
Bashir B et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2024
Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.
Makhmudova U et al.
Journal of Medical Case Reports, 2024
Carboxyl-terminal sequences in APOA5 are important for suppressing ANGPTL3/8 activity.
Chen YQ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Genetic variation in apolipoprotein A-V in hypertriglyceridemia.
Perera SD et al.
Current Opinion in Lipidology, 2024
A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia.
Vasiluev PA et al.
Genes, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Analysis of causal effect of APOA5 variants on premature coronary artery disease.
Wang F et al.
Annals of Human Genetics, 2018
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
Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis.
Forte TM et al.
Journal of Biomedical Research, 2016
Whole Exome Sequencing in Monogenic Dyslipidemias.
Tada H et al.
Journal of Atherosclerosis and Thrombosis, 2015
Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.
Hooper AJ et al.
Annals of Clinical Biochemistry, 2014
Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant.
Albers K et al.
Atherosclerosis, 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
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M et al.
Plos One, 2014
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M et al.
Plos One, 2014
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.
Mendoza-Barberá E et al.
Journal of Lipid Research, 2013
APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
Dussaillant C et al.
Bmc Medical Genetics, 2012
Allelic and phenotypic spectrum of plasma triglycerides.
Johansen CT et al.
Biochimica Et Biophysica Acta, 2012
Resequencing the apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia.
Evans D et al.
Atherosclerosis, 2011
Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.
Pisciotta L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Apolipoprotein A-V; a potent triglyceride reducer.
Nilsson SK et al.
Atherosclerosis, 2011
Apolipoprotein A-V N-terminal domain lipid interaction properties in vitro explain the hypertriglyceridemic phenotype associated with natural truncation mutants.
Wong-Mauldin K et al.
The Journal of Biological Chemistry, 2009
A novel APOA5 splicing mutation IVS2+1g>a in a Japanese chylomicronemia patient.
Okubo M et al.
Atherosclerosis, 2009
Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.
Charrière S et al.
Atherosclerosis, 2009
Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.
Dorfmeister B et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2008
Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene.
Priore Oliva C et al.
Journal of Internal Medicine, 2008
Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.
Chokshi N et al.
Journal of Clinical Lipidology, 0
Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk.
Thériault S et al.
Journal of Clinical Lipidology, 0
Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.
Perera SD et al.
Journal of Clinical Lipidology, 0
Evaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiye.
Cakmak B et al.
Journal of Clinical Lipidology, 0