Ontology highlight
ABSTRACT:
SUBMITTER: Chen C
PROVIDER: S-EPMC7031319 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Chen Cheng C Lu Mengjia M Lin Shuo S Qin Wei W
Cell death & disease 20200219 2
Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome, characterized by red blood cell aplasia, developmental abnormalities, and enhanced risk of malignancy. However, the underlying pathogenesis of DBA is yet to be understood. Recently, mutations in the gene encoding ribosomal protein (RP) L18 were identified in DBA patients. RPL18 is a crucial component of the ribosomal large subunit but its role in hematopoiesis remains unknown. To genetically model the ribosomal defe ...[more]