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

Telomere biology was first studied in maize, ciliates, yeast, and mice, and in recent decades,
it has informed understanding of common disease mechanisms with broad implications for …

The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with
myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20 …

Aplastic Anemia | New England Journal of Medicine Skip to main content The New England
Journal of Medicine homepage Advanced Search SEARCH The New England Journal of …

Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In
contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here …

As individuals with germ line predisposition to hematologic malignancies are diagnosed
with increasing frequency, the need for clinical surveillance has become apparent …

Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of
age-related somatic mutations, whereas MDS presenting in children and younger adults is …

Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely
critical to appropriate management, especially differentiating between acquired and …

BACKGROUND Germline mutations in telomerase and other telomere maintenance genes
manifest in the premature aging short telomere syndromes. Myelodysplastic syndromes and …

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 …