Genomics

Dataset Information

0

Homo sapiens


ABSTRACT: Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA177638 | ENA |

REPOSITORIES: ENA

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Publications

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

Gazda Hanna T HT   Kho Alvin T AT   Sanoudou Despina D   Zaucha Jan M JM   Kohane Isaac S IS   Sieff Colin A CA   Beggs Alan H AH  

Stem cells (Dayton, Ohio) 20060601 9


Diamond-Blackfan anemia (DBA) is a broad developmental disease characterized by anemia, bone marrow (BM) erythroblastopenia, and an increased incidence of malignancy. Mutations in ribosomal protein gene S19 (RPS19) are found in approximately 25% of DBA patients; however, the role of RPS19 in the pathogenesis of DBA remains unknown. Using global gene expression analysis, we compared highly purified multipotential, erythroid, and myeloid BM progenitors from RPS19 mutated and control individuals. W  ...[more]

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