Associated Papers
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified
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
39234690 (PubMed )
Supplement: atv-44-2334-s001.pdf
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
Comparison of the structure-function properties of wild-type human apoA-V and a C-terminal truncation associated with elevated plasma triglycerides.
Stankov S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.
Hooper AJ et al.
Annals of Clinical Biochemistry, 2014
Co-occurrence of heterozygous CREB3L3 and APOA5 nonsense variants and polygenic risk in a patient with severe hypertriglyceridemia exacerbated by estrogen administration.
Wójcik C 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
Characterization of familial chylomicronemia syndrome in a compound heterozygote for 2 APOA5 nonsense variants.
Mueller PA et al.
Journal of Clinical Lipidology, 0
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