Autoinflammatory diseases (AIDs) are a genetically heterogeneous group of diseases
caused by mutations of genes encoding proteins, which play a pivotal role in the regulation …

Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory
disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D …

Cholesterol biosynthesis serves as a central metabolic hub for numerous biological
processes in health and disease. A detailed, integrative single-view description of how the …

Autoinflammatory diseases are comprehensively caused by aberrant production of
proinflammatory cytokines and are revealed by cyclically and spontaneously occurring …

The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and
new signalling pathways are being decrypted. The concept of autoinflammation has been …

Nanoplastic pollution typically exhibits more biotoxicity to marine organisms than
microplastic pollution. Limited research exists on the toxic effects of small-sized nanoplastics …

Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic
autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence …

Aim Up to 20% of pregnancies end in the first trimester by spontaneous abortion but the
cause of a large proportion remains unexplained. The aim of this study was to investigate …

Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional
study - PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI Homepage …

Data from thousands of human genomes is currently available, revealing several thousand
variations in our genes. A grand challenge is to determine what, if any, impact each …