Ontology highlight
ABSTRACT:
SUBMITTER: Ceccaldi R
PROVIDER: S-EPMC3392433 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Cell stem cell 20120607 1
Fanconi anemia (FA) is an inherited DNA repair deficiency syndrome. FA patients undergo progressive bone marrow failure (BMF) during childhood, which frequently requires allogeneic hematopoietic stem cell transplantation. The pathogenesis of this BMF has been elusive to date. Here we found that FA patients exhibit a profound defect in hematopoietic stem and progenitor cells (HSPCs) that is present before the onset of clinical BMF. In response to replicative stress and unresolved DNA damage, p53 ...[more]