Copy-number variants (CNVs) that increase the risk for neurodevelopmental disorders also affect cognitive ability. However, such CNVs remain challenging to study due to their scarcity, limiting our understanding of gene-dosage-sensitive biological processes linked to cognitive ability. We performed a genome-wide association study (GWAS) in 258,292 individuals, which identified-for the first time-a duplication at 2q12.
View Article and Find Full Text PDFSphingosine 1-phosphate (S1P) is a lysosphingolipid with antiatherogenic properties, but mechanisms underlying its effects remain unclear. We here investigated atherosclerosis development in cholesterol-rich diet-fed LDL receptor-deficient mice with high or low overexpression levels of S1P receptor 1 (S1P1) in macrophages. S1P1-overexpressing macrophages showed increased activity of transcription factors PU.
View Article and Find Full Text PDFCoronary artery disease (CAD) is characterized by narrowing and subsequent blockade of coronary arteries, and imposes a significant health and economic burden. Stent and scaffold devices are introduced in advanced CAD to improve vascular stability and restore blood flow. Although in vitro flow systems like the Chandler loop have been developed to enhance the understanding of interactions between device materials, their coatings, and vascular cells, imaging-based in vitro analysis of device performance is limited.
View Article and Find Full Text PDFJ Intern Med
October 2024
Curr Opin Biotechnol
December 2024
Polyphosphates play a crucial role in various biological processes, such as blood coagulation, energy homeostasis, and cellular stress response. However, their isolation, detection, and quantification present significant challenges. These difficulties arise primarily from their solubility, low concentration in mammals, and structural similarity to other ubiquitous biopolymers.
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