Polygenic risk for hypertriglyceridemia can mimic a major monogenic mutation
Background: One in 1 million persons has monogenic, familial chylomicronemia that leads
to marked hypertriglyceridemia (fasting plasma triglyceride levels> 10 mmol/L [> 885 …
to marked hypertriglyceridemia (fasting plasma triglyceride levels> 10 mmol/L [> 885 …
[HTML][HTML] Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia
A Caddeo, RM Mancina, C Pirazzi, C Russo… - Nutrition, Metabolism …, 2018 - Elsevier
Background and aims Type I hyperlipoproteinemia, also known as familial chylomicronemia
syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2 …
syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2 …
[HTML][HTML] Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent …
Y Lun, X Sun, P Wang, J Chi, X Hou, Y Wang - Oncotarget, 2017 - ncbi.nlm.nih.gov
Lipoprotein lipase (LPL) is widely expressed in skeletal muscles, cardiac muscles as well as
adipose tissue and involved in the catabolism of triglyceride. Herein we have systematically …
adipose tissue and involved in the catabolism of triglyceride. Herein we have systematically …
Novel therapies for severe dyslipidemia originating from human genetics
D Gaudet - Current opinion in lipidology, 2016 - journals.lww.com
Several novel therapies are recently available or under development to treat severe
dyslipidemia and associated risk stem directly from genetic research. Altogether, these …
dyslipidemia and associated risk stem directly from genetic research. Altogether, these …
Asymptomatic carotid atherosclerosis cardiovascular risk factors and common hypertriglyceridemia genetic variants in patients with systemic erythematosus lupus
M Fanlo-Maresma, B Candás-Estébanez… - Journal of Clinical …, 2021 - mdpi.com
SLE is associated with increased cardiovascular risk. The objective of this study was to
determine the prevalence of asymptomatic carotid atherosclerosis to analyze its relationship …
determine the prevalence of asymptomatic carotid atherosclerosis to analyze its relationship …
Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia
NM Tate, M Underwood, A Thomas-Hollands… - Genes, 2024 - mdpi.com
Miniature Schnauzers are predisposed to primary hypertriglyceridemia (HTG). In this study,
we performed whole genome sequencing (WGS) of eight Miniature Schnauzers with primary …
we performed whole genome sequencing (WGS) of eight Miniature Schnauzers with primary …
Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene
J Wang, X Sun, L Jiao, Z Xiao, F Riaz, Y Zhang… - Frontiers in …, 2022 - frontiersin.org
Objective: Our study aims to summarize and analyze the clinical characteristics of transient
infantile hypertriglyceridemia (HTGTI) and variants in the glycerol-3-phosphate …
infantile hypertriglyceridemia (HTGTI) and variants in the glycerol-3-phosphate …
Гетерогенность липопротеидов и их роль в развитии сердечно-сосудистых заболеваний
ЕА Уткина, ОИ Афанасьева… - Российский …, 2019 - cyberleninka.ru
В основу “липидной гипотезы” патогенеза атеросклероза заложены нарушения
липидного обмена и, в частности, гиперхолестеринемия. Основными участниками …
липидного обмена и, в частности, гиперхолестеринемия. Основными участниками …
Primary hypertriglyceridemia: a look back on the clinical classification and genetics of the disease
M Musambil, K Al-Rubeaan, S Al-Qasim… - Current Diabetes …, 2020 - ingentaconnect.com
Introduction: Hypertriglyceridemia (HTG) is one of the most common metabolic disorders
leading to pancreatitis and cardiovascular disease. HTG develops mostly due to impaired …
leading to pancreatitis and cardiovascular disease. HTG develops mostly due to impaired …
[HTML][HTML] Hipertrigliceridemia grave y síndrome de quilomicronemia familiar: una revisión de la literatura reciente
DI Salazar, R Villar-Moya, M Villar-Henríquez… - Revista Colombiana …, 2021 - scielo.org.co
La hipertrigliceridemia (HTG) es un problema que se presenta con frecuencia en la práctica
clínica. Su prevalencia en adultos es cercana al 10%. El espectro varía desde una …
clínica. Su prevalencia en adultos es cercana al 10%. El espectro varía desde una …