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A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia.
Iran Biomed J
September 2021
International UNESCO Center for Health-Related Basic Sciences and Human Nutrition, Department of Nutrition, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Background: familial hypercholesterolemia (FH), a hereditary disorder, is caused by pathogenic variants in the LDLR, APOB, and PCSK9 genes. This study has assessed genetic variants in a family, clinically diagnosed with FH.
Methods: A family was recruited from MASHAD study in Iran with possible FH based on the Simon Broom criteria.
Medicinal plants and bioactive natural compounds as inhibitors of HMG-CoA reductase: A literature review.
Biofactors
November 2020
Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.
Cardiovascular diseases (CVDs) are one of the most important causes for mortality worldwide. Elevated levels of total cholesterol, and particularly LDL-cholesterol (LDL-C) are the main risk factor for acute myocardial infarction (AMI) and ischemic heart disease. The risk of CVDs could be reduced by decreasing the elevated cholesterol levels.
View Article and Find Full Text PDFPersonalised medicine in hypercholesterolaemia: the role of pharmacogenetics in statin therapy.
Ann Med
December 2020
Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Statins are the first-line choice in Lipid-lowering therapy to reduce cardiovascular risk. In a continuous attempt to optimise treatment success, there is a need for additional research on genes and related molecular pathways that can determine the efficacy and toxicity of lipid-lowering drugs. Several variations within genes associated with lipid metabolism, including those involved in uptake, distribution and metabolism of statins have been reported.
View Article and Find Full Text PDFInflammatory Biomarkers for Cardiovascular Risk Stratification in Familial Hypercholesterolemia.
Rev Physiol Biochem Pharmacol
January 2021
Halal Research Center of IRI, FDA, Tehran, Iran.
Familial hypercholesterolemia (FH) is a frequent autosomal genetic disease characterized by elevated concentrations of low-density lipoprotein cholesterol (LDL) from birth with increased risk of premature atherosclerotic complications. Accumulating evidence has shown enhanced inflammation in patients with FH. In vessels, the deposition of modified cholesterol lipoproteins triggers local inflammation.
View Article and Find Full Text PDFBrief recommendations on the management of adult patients with familial hypercholesterolemia during the COVID-19 pandemic.
Pharmacol Res
August 2020
FH Europe, Europe. Electronic address:
Individuals with Familial Hypercholesterolaemia (FH) are at very high risk of cardiovascular disease, which is associated with poor outcomes from coronavirus infections. COVID-19 puts strain on healthcare systems and may impair access to routine FH services. On behalf of the International Lipid Expert Panel (ILEP) and the European FH Patient Network (FH Europe), we present brief recommendations on the management of adult patients with FH during the COVID-19 pandemic.
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