Production of ribosomes is a fundamental process that occurs in all dividing cells. It is a
complex process consisting of the coordinated synthesis and assembly of four ribosomal …

Defects in ribosome biogenesis are associated with a group of diseases called the
ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes …

The gene encoding the small subunit ribosomal protein 19 (RPS19) is mutated in about 25%
of cases of the bone marrow failure syndrome Diamond Blackfan Anemia (DBA), a …

Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually
manifests in the first year of life. The only gene currently known to be mutated in DBA …

The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-
Blackfan anemia (DBA), a congenital erythroblastopenia. The consequence of these …

Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor
differentiation. DBA is emerging as a paradigm for a new class of pathologies potentially …

Our knowledge of the functions of metazoan ribosomal proteins in ribosome synthesis
remains fragmentary. Using siRNAs, we show that knockdown of 31 of the 32 ribosomal …

Within the decade following the demonstration that mutations in the RPS19 gene can lead to
Diamond-Blackfan anemia (DBA), this disease has become a paradigm for an emerging …

RPS19 has been identified as the first gene associated with Diamond–Blackfan anemia
(DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. It …

Diamond–Blackfan anemia (DBA) is a rare congenital disease linked to mutations in the
ribosomal protein genes rps19, rps24 and rps17. It belongs to the emerging class of …