Telomerase is the ribonucleoprotein enzyme that catalyzes the extension of telomeric DNA
in eukaryotes. Recent work has begun to reveal key aspects of the assembly of the human …

The importance of telomere function for human health is exemplified by a collection of
Mendelian disorders referred to as the telomere biology disorders (TBDs), telomeropathies …

Ataxia-pancytopenia (AP) syndrome is characterized by cerebellar ataxia, variable
hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia …

The yeast homologs of the ATM and ATR DNA damage response kinases play key roles in
telomerase-mediated telomere maintenance, but the role of ATM/ATR in the mammalian …

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

The vast body of literature regarding human telomere maintenance is a true testament to the
importance of understanding telomere regulation in both normal and diseased states. In this …

Telomerase recruitment to telomeres and enzymatic processivity are mediated by TPP1, an
essential component of telomere integrity and telomerase function. A surface on the OB …

Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita
(DC), a bone marrow failure syndrome (BMFS) caused by defective telomere maintenance …

Dyskeratosis congenital (DC) is the first genetic syndrome described among
telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of …

Telomerase replicates chromosome ends to facilitate continued cell division. Mutations that
compromise telomerase function result in stem cell failure diseases, such as dyskeratosis …