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Br J Haematol. 2008 May;141(3):376-87. doi: 10.1111/j.1365-2141.2008.07095.x.

Ribosomal dysfunction and inherited marrow failure.

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  • 1Department of Haematology/Oncology, Children's Hospital/Dana Farber Cancer Institute, Boston, MA, USA.


Impairment of ribosome biogenesis or function characterizes several of the inherited bone marrow failure syndromes: Diamond-Blackfan anaemia, dyskeratosis congenita (DC), Shwachman-Diamond syndrome and cartilage-hair hypoplasia. These syndromes exhibit overlapping but distinct clinical phenotypes and each disorder involves different aspects of ribosomal biogenesis. The clinical characteristics of each syndrome are briefly reviewed. Molecular studies of ribosome biogenesis and function in each of these syndromes are discussed. Models of how impairment of ribosomal pathways might affect haematopoiesis and tumorigenesis are explored.

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