[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].
Hirosaki, Japan. In Rinsho Ketsueki, Jul 2015
In DBA, mutations or large deletions in RP genes include RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RPL5, RPL11, RPL26 and RPL35A.
Reference genes for reverse transcription quantitative PCR in canine brain tissue.
Utrecht, Netherlands. In Bmc Res Notes, 2014
RESULTS: Following the minimum information for publication of quantitative real-time PCR experiments precise guidelines, the expression of ten frequently used reference genes, namely YWHAZ, HMBS, B2M, SDHA, GAPDH, HPRT, RPL13A, RPS5, RPS19 and GUSB was evaluated in seven brain regions (frontal lobe, parietal lobe, occipital lobe, temporal lobe, thalamus, hippocampus and cerebellum) and whole brain of healthy dogs.
Altered translation of GATA1 in Diamond-Blackfan anemia.
Boston, United States. In Nat Med, 2014
In primary hematopoietic cells from patients with mutations in RPS19, encoding ribosomal protein S19, the amplitude of a transcriptional signature of GATA1 target genes was globally and specifically reduced, indicating that the activity, but not the mRNA level, of GATA1 is decreased in patients with DBA associated with mutations affecting ribosomal proteins.
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Baltimore, United States. In Blood, 2012
Studies identified deletions at known Diamond-Blackfan anemia (DBA)-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A.
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
Baltimore, United States. In Semin Hematol, 2011
Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients.
Diamond Blackfan anemia: ribosomal proteins going rogue.
Louisville, United States. In Semin Hematol, 2011
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 group of pathologies linked to defects in ribosome biogenesis.