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Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing
British Journal of Haematology, 05/12/09
Rujkijyanont P et al. - Several genes involved in RP mRNA transcription were downregulated without affecting the expression of genes involved in mRNA degradation, suggesting that the downregulation of the RP gene expression might be at the transcriptional level. Importantly authors also found dysregulation of multiple genes involved in rRNA transcription and pre-rRNA processing. The authors conclude that SDS marrow cells exhibit major dysregulation of RP, RNA processing and RNA transcription genes.
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