Telomere repeats at chromosomal ends, critical to genome integrity, are maintained through
an elaborate network of proteins and pathways. Shelterin complex proteins shield telomeres …

The p53 protein has been extensively studied for its capacity to prevent proliferation of cells
with a damaged genome. Surprisingly, however, our recent analysis of mice expressing a …

In the mammalian genome, certain genomic loci/regions pose greater challenges to the
DNA replication machinery (ie, the replisome) than others. Such known genomic loci/regions …

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

Fanconi anemia (FA) is a recessively inherited disease manifesting developmental
abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has …

Short telomere syndromes (STSs) are accelerated aging syndromes often caused by
inheritable gene mutations resulting in decreased telomere lengths. Consequently, organ …

Fanconi anaemia (FA) is the most frequent inherited bone marrow failure syndrome, due to
mutations in genes encoding proteins involved in replication fork protection, DNA interstrand …

ABSTRACT p53 (encoded by Trp53) is a tumor suppressor, but mouse models have
revealed that increased p53 activity may cause bone marrow failure, likely through …

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 …

Germline mutations affecting telomere maintenance or DNA repair may, respectively, cause
dyskeratosis congenita or Fanconi anaemia, two clinically related bone marrow failure …