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Accession IconGSE14335

Whole genome profiling of fibroblasts from Diamond-Blackfan Anemia patients

Organism Icon Homo sapiens
Sample Icon 10 Downloadable Samples
Technology Badge Icon Affymetrix Human Genome U133A 2.0 Array (hgu133a2)

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Description
Diamond-Blackfan Anemia (DBA) is a rare inherited red cell hypoplasia characterized by a defect in the maturation of erythroid progenitors and is in some cases associated to malformations. Patients have an increased risk of solid tumors. Mutations have been found in several ribosomal protein (RP) genes. Studies in hematopoietic progenitors from patients show that the haploinsufficiency of an RP impairs rRNA processing and ribosome biogenesis. DBA lymphocytes and fibroblasts show reduced protein synthesis, and the latter display abnormal rRNA processing and impaired proliferation.
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