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Background: The L68Q variant of cystatin C is highly amyloidogenic forming aggregates in individuals with HCCAA. Results: Spermatozoa from mice expressing human L68Q cystatin C exhibit fertility defects and increased levels of amyloid. Conclusion: L68Q epididymal fluid containing cystatin C amyloid is harmful for sperm function. Significance: Amyloid in the reproductive tract may contribute to mal

Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91 462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followe

Mitochondrial dysfunction is implicated in neurodegenerative disorders, such as Alzheimer's disease (AD). Translocase of outer mitochondrial membrane 40 (TOMM40) may be influential in this regard by influencing mitochondrial neurotoxicity. Little is known about the influence of the TOMM40 gene on hippocampal (HC) volume and episodic memory (EM), particularly in healthy older adults. Thus, we sough

Procarboxypeptidase U [proCPU, thrombin-activatable fibrinolysis inhibitor (TAFI), EC 3.4.17.20] belongs to the metallocarboxypeptidase family and is a zymogen found in human plasma. ProCPU has been proposed to be a molecular link between coagulation and fibrinolysis. Upon activation of proCPU, the active enzyme (CPU) rapidly becomes inactive due to its intrinsic instability. The inherent instabil

Here we report the results from exploratory analysis using a Bayesian network approach of data originally derived from a large North European study of type 2 diabetes (T2D) conducted by the IMI DIRECT consortium. 3029 individuals (795 with T2D and 2234 without) within 7 different study centres provided data comprising genotypes, proteins, metabolites, gene expression measurements and many differen

Understanding the atomic-scale interfaces in advanced semiconductor heterostructures is essential for controlling defects, optimizing material properties, and ensuring device reliability. In this work, we present a comprehensive study of the atomic structure at Al(Ga)N interfaces in N-polar GaN high-electron-mobility transistor structures (HEMTs) via aberration-corrected annular dark field scannin

Introduction: Obesity affects nearly 1 in 4 European adults increasing their risk for mortality and physical and psychological morbidity. Obesity is a chronic relapsing disease characterized by abnormal or excessive adiposity with risks to health. Medical nutrition therapy based on the latest scientific evidence should be offered to all Europeans living with obesity as part of obesity treatment in

Static program analysis plays a crucial role in ensuring the quality and security of software applications by detecting and fixing bugs, and potential security vulnerabilities in the code. The use of declarative paradigms in dataflow analysis as part of static program analysis has become increasingly popular in recent years. This is due to its enhanced expressivity and modularity, allowing for a h