Ontology highlight
ABSTRACT:
SUBMITTER: Macri S
PROVIDER: S-EPMC4578940 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Macrì Serena S Pavesi Elisa E Crescitelli Rossella R Aspesi Anna A Vizziello Claudia C Botto Carlotta C Corti Paola P Quarello Paola P Notari Patrizia P Ramenghi Ugo U Ellis Steven Robert SR Dianzani Irma I
PloS one 20150922 9
Diamond-Blackfan Anaemia (DBA) is a rare inherited anaemia caused by heterozygous mutations in one of 13 ribosomal protein genes. Erythroid progenitors (BFU-E and CFU-E) in bone marrow (BM) show a proapoptotic phenotype. Suspicion of DBA is reached after exclusion of other forms of BM failure syndromes. To improve DBA diagnosis, which is confirmed by mutation analysis, we tested a new approach based on the study of extracellular vesicles (EVs) isolated from plasma by differential centrifugations ...[more]