RNA stability and quality control are integral parts of gene expression regulation. A key
factor shaping eukaryotic transcriptomes, mainly via 3′–5′ exoribonucleolytic trimming or …

Monogenic intestinal epithelial disorders, also known as congenital diarrheas and
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …

Hyperuricemia is an essential causal risk factor for gout and is associated with
cardiometabolic diseases. Given the limited contribution of East Asian ancestry to genome …

Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic
scarring and inflammation that disrupts liver architecture and function. While it is typically the …

The proximal part of the small intestine, including duodenum and jejunum, is not only
dedicated to nutrient digestion and absorption but is also a highly regulated immune site …

The understanding of common variable immunodeficiency disorders (CVID) is in evolution.
CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the …

The SKIV2L RNA exosome is an evolutionarily conserved RNA degradation complex in the
eukaryotes. Mutations in the SKIV2L gene are associated with a severe inherited disorder …

Highlights•RNA exosome structures with nuclear and cytoplasmic interaction partners.•Ski2-
like helicases are organizing hubs for substrate recruitment complexes.•Hierarchical RNA …

Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically
heterogeneous group of over 350 disorders affecting development or function of the immune …

Abstract Purpose of the Review Type I interferonopathies are monogenic autoinflammatory
diseases induced by constitutive activation of type I interferon. Here, we provide an overview …