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

Background Dyskeratosis congenita (DC) is a multisystem syndrome characterized by
mucocutaneous abnormalities, bone marrow failure, and predisposition to cancer. Studies …

Numerous genetic discoveries and the advent of clinical telomere length testing have led to
the recognition of a spectrum of telomere biology disorders (TBDs) beyond the classic …

The inherited bone marrow failure syndromes (IBMFS) typically present with significant
cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia …

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by
genetic mutations that principally affect telomere biology. Approximately 35% of cases …

Telomerase RNA (TERC) has a noncanonical function in myelopoiesis binding to a
consensus DNA binding sequence and attracting RNA polymerase II (RNA Pol II), thus …

Mutations in the 3′ to 5′ RNA exonuclease USB1 cause hematopoietic failure in
poikiloderma with neutropenia (PN). Although USB1 is known to regulate U6 small nuclear …

Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by
a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy …

Alternative RNA splicing is an important regulatory process used by genes to increase their
diversity. This process is mainly executed by specific classes of RNA binding proteins that …

The levels of non-coding RNAs (ncRNAs) are regulated by transcription, RNA processing,
and RNA degradation pathways. One mechanism for the degradation of ncRNAs involves …