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Causal relationships between uremic metabolites or toxins and heart failure: Univariate and multivariate Mendelian randomization.
Medicine (Baltimore)
November 2024
Department of Cardiology and Institute of Vascular Medicine, Peking University Third Hospital, Beijing, China.
Studies have shown that uremia, renal failure and heart failure (HF) are closely related. However, whether this association reflects a causal effect is still unclear. The aim of this study was to evaluate the causal effect of uremic metabolites or toxins on HF.
View Article and Find Full Text PDFBackground: Familial hyperlipidemia (familial hypercholesterolemia, FH) is an autosomal genetic disorder. It includes type heterozygous familial hyperlipidemia (heterozygous familial hypercholesterolemia). HeFH is mainly caused by mutations in the LDLR, APOB, and PCSK9 genes and is characterized by elevated plasma low-density lipoprotein cholesterol levels.
View Article and Find Full Text PDFEvaluating the differential benefits of varying carbohydrate-restricted diets on lipid profiles and cardiovascular risks in dyslipidemia: a meta-analysis and systematic review.
Food Funct
January 2025
Institute for Innovative Development of Food Industry, Shenzhen University, Shenzhen 518060, China.
: carbohydrate-restricted diets (CRDs) have gained attention to address metabolic dysregulation commonly observed in dyslipidemia, a condition posing significant risks to cardiovascular health. However, the effectiveness of CRDs in improving cardiovascular health remains contentious. This meta-analysis comprehensively evaluated the long-term effects of CRDs on glucolipid metabolism and weight loss in individuals with dyslipidemia.
View Article and Find Full Text PDFFragment-specific Quantification of 5hmC by qPCR via a Combination of Enzymatic Digestion and Deamination: Extreme Specificity, High Sensitivity, and Clinical Applicability.
Anal Chem
January 2025
School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai 200240, China.
Accurate identification and quantification of 5-hydroxymethylcytosine (5hmC) can help elucidate its function in gene expression and disease pathogenesis. Current 5hmC analysis methods still present challenges, especially for clinical applications, such as having a risk of false-positive results and a lack of sufficient sensitivity. Herein, a 5hmC quantification method for fragment-specific DNA sequences with extreme specificity, high sensitivity, and clinical applicability was established using a quantitative real-time PCR (qPCR)-based workflow through the combination of enzymatic digestion and biological deamination strategy (EDD-5hmC assay).
View Article and Find Full Text PDFFamilial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Atheroscler Plus
March 2025
Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Background And Aims: Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic disorders that remain underdiagnosed and undertreated, due in part to the cost of screening. The aim of this study was to design and implement a whole gene targeted NGS panel for the molecular diagnosis of FH and statin intolerance with an emphasis on high quality variant calling, including copy number analysis.
Methods: A whole gene panel for hybridisation-based short read NGS was designed for the dominant FH-genes low density lipoprotein receptor (), apolipoprotein B (APOB), proproteinconvertas subtilisin/kexin type 9 (PCSK9), apolipoprotein E (APOE) and the recessive FH-genes low density lipoprotein receptor adaptor protein 1 (), ATP binding cassette subfamily member 5/8 (ABCG5/8) and lipase A, lysosomal acid type (), as well as solute carrier organic anion transporter family member 1B1 (), not an FH gene but linked to statin intolerance.
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