A5075119011- Lipoproteins and Cardiovascular Health
- Cancer, Lipids, and Metabolism
- Genetic factors in colorectal cancer
- Cholesterol and Lipid Metabolism
- Lipid metabolism and disorders
- Drug Transport and Resistance Mechanisms
- Pharmaceutical Economics and Policy
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Hormonal Regulation and Hypertension
- Helicobacter pylori-related gastroenterology studies
- Genetic Associations and Epidemiology
- Atherosclerosis and Cardiovascular Diseases
- Health Systems, Economic Evaluations, Quality of Life
Amsterdam University Medical Centers
2018-2024
University of Amsterdam
2018-2024
Amsterdam UMC Location University of Amsterdam
2015-2022
Nanyang Technological University
2022
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by extremely increased low-density lipoprotein (LDL) cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Heterozygous (HeFH) more common than HoFH, women with HeFH are diagnosed later undertreated compared to men; it unknown whether these sex differences also apply HoFH.
In clinical trials, protein convertase subtilisin/kexin type 9 (PCSK9) inhibitors robustly lowered LDL-cholesterol (LDL-c) and had a favorable tolerability safety profile. Based on these findings, PCSK9 are incorporated in updates of treatment guidelines. However, trial results do not necessarily predict the effectiveness under real-world conditions. The aim current study is to determine efficacy routine outpatient care.The cohort comprised all patients who were prescribed evolocumab or...
Mutations in the genes for low-density lipoprotein receptor (LDLR), apolipoprotein B, and proprotein convertase subtilisin/kexin type 9 have been reported to cause heterozygous homozygous familial hypercholesterolemia (FH).The objective is examine influence of double heterozygous, compound or mutations underlying FH on efficacy alirocumab.Patients from 6 alirocumab trials with elevated cholesterol (LDL-C) diagnosis were sequenced LDLR, 9, LDLR adaptor protein 1 (LDLRAP1), signal-transducing...
STAP1, encoding for STAP1 (signal transducing adaptor family member 1), has been reported as a candidate gene associated with familial hypercholesterolemia. Unlike established hypercholesterolemia genes, expression of is absent in liver but mainly observed immune cells. In this study, we set out to validate gene. Approach and Results: A whole-body Stap1 knockout mouse model (Stap1-/-) was generated characterized, without showing changes plasma lipid levels compared controls. follow-up...
Background: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region LDLR , APOB or PCSK9 . We set out to identify culprit genetic defect large family with clinical FH, whom no mutations were identified regions these genes. Methods: Whole genome sequencing was performed 5 affected and 4 unaffected individuals from unexplained autosomal...
The trans intestinal cholesterol excretion (TICE) pathway is a potential therapeutic target to reduce plasma low-density lipoprotein (LDL) levels. TICE encompasses the direct of by enterocytes into feces. In mice, has been shown be stimulated hydrophilic bile acid pool, resulting in increased fecal neutral sterol loss and reduced We investigated whether treatment with acid, ursodeoxycholic (UDCA), would increase sterols humans as proxy for TICE.
Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein-cholesterol and markedly increased cardiovascular risk. In patients with a genetic diagnosis, lipoprotein receptor (LDLR) mutations account for >90% of cases, apolipoprotein B (APOB) ≈5% while proprotein convertase subtilisin kexin type 9 (PCSK9) gain function are rare (<1% cases). We aimed to evaluate the functional impact several novel PCSK9 variants in cohort FH cascade screening vitro functionality...
Abstract Objective The Trans Intestinal Cholesterol Excretion (TICE) pathway is a potential therapeutic target to reduce plasma low-density lipoprotein (LDL) cholesterol levels. TICE encompasses the direct excretion of by enterocytes into feces. In mice has been shown be stimulated hydrophilic bile acid pool, resulting in increased fecal neutral sterols (FNS) loss and reduced We investigated whether treatment with – ursodeoxycholic (UDCA) - would increase FNS humans as proxy for TICE....