A constellation of related genetic diseases are caused by defects in the telomere
maintenance machinery. These disorders, often referred to as telomeropathies, share …

Regulator of telomere elongation 1 (RTEL1) is known as a DNA helicase that is important for
telomeres and genome integrity. However, the diverse phenotypes of RTEL1 dysfunction …

Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson
syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal …

The clinical and histopathological distinctions between inherited versus acquired bone
marrow failure and myelodysplastic syndromes are challenging. The identification of …

Hoyeraal–Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by
very short telomeres and considered a clinically severe variant of dyskeratosis congenita …

Telomeres comprise the ends of eukaryotic chromosomes and are essential for cell
proliferation and genome maintenance. Telomeres are replicated by telomerase, a …

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with
characteristic mucocutaneous features and a variable series of other somatic abnormalities …

Telomeres repress the DNA damage response at the natural chromosome ends to prevent
cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a …

The analysis of individuals with telomere defects may shed light on the delicate interplay of
factors controlling genome stability, premature aging, and cancer. We herein describe two …

Since 1998, there have been great advances in our understanding of the pathogenesis of
dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition …