| Ribosomopathies: human disorders of ribosome dysfunction. | |
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MedLine Citation:
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PMID: 20194897 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital syndromes, Schwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and Treacher Collins syndrome. In addition, the 5q- syndrome, a subtype of myelodysplastic syndrome, is caused by a somatically acquired deletion of chromosome 5q, which leads to haploinsufficiency of the ribosomal protein RPS14 and an erythroid phenotype highly similar to Diamond-Blackfan anemia. Acquired abnormalities in ribosome function have been implicated more broadly in human malignancies. The p53 pathway provides a surveillance mechanism for protein translation as well as genome integrity and is activated by defects in ribosome biogenesis; this pathway appears to be a critical mediator of many of the clinical features of ribosomopathies. Elucidation of the mechanisms whereby selective abnormalities in ribosome biogenesis cause specific clinical syndromes will hopefully lead to novel therapeutic strategies for these diseases. |
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Authors:
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Anupama Narla; Benjamin L Ebert |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review Date: 2010-03-01 |
Journal Detail:
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Title: Blood Volume: 115 ISSN: 1528-0020 ISO Abbreviation: Blood Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-23 Completed Date: 2010-05-20 Revised Date: 2011-07-28 |
Medline Journal Info:
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Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
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Languages: eng Pagination: 3196-205 Citation Subset: AIM; IM |
Affiliation:
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Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Genetic Diseases, Inborn* Humans Ribosomes / genetics*, metabolism, pathology* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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R01 HL82945/HL/NHLBI NIH HHS |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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