Format

Send to

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

Ribosomal dysfunction and inherited marrow failure.

Author information

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

Abstract

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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center