Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

ABSTRACT Introduction: Telomere biology disorders (TBDs) encompass a group of
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …

Background: The utility of whole-exome sequencing (WES) for the diagnosis and
management of adult-onset constitutional disorders has not been adequately studied …

RNA-binding proteins (RBPs) are essential for the development and function of the immune
system. They interact dynamically with RNA to control its biogenesis and turnover by …

Mutations that target the ubiquitous process of ribosome assembly paradoxically cause
diverse tissue-specific disorders (ribosomopathies) that are often associated with an …

Studies of rare and common illnesses have led to remarkable progress in the understanding
of the role of telomeres (nucleoprotein complexes at chromosome ends essential for …

The non-coding RNA subunit of telomerase provides the template for telomerase activity. In
diverse fungi, 3′ end processing of telomerase RNA involves a single cleavage by the …

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome | Blood | American
Society of Hematology Skip to Main Content Advertisement Umbrella Alt Text Umbrella Alt Text …

Ribosomal RNAs, the most abundant cellular RNA species, have evolved as the structural
scaffold and the catalytic center of protein synthesis in every living organism. In eukaryotes …

Genetic lesions that reduce telomerase activity inhibit stem cell replication and cause a
range of incurable diseases, including dyskeratosis congenita (DC) and pulmonary fibrosis …