Ribosomal dysfunction and inherited marrow failure.

Ribosomal dysfunction and inherited marrow failure. Research Abstract Details 

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Ribosomal dysfunction and inherited marrow failure. Abstract Text:

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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Ribosomal dysfunction and inherited marrow failure. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: British journal of haematology

VOLUME: 141

Page Numbers: 376-87

Journal Abbreviation: Br. J. Haematol.

ISSN: 1365-2141

DAY: 15

MONTH: May

YEAR: 2008

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LANGUAGE: eng

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Grant and Affiliation Information for Ribosomal dysfunction and inherited marrow failure.

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

Country: England

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MEDLINETA: Br J Haematol

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