| New insights into 5q- syndrome as a ribosomopathy. | |
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MedLine Citation:
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PMID: 20980806 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Myelodysplastic Syndromes (MDS) are a heterogeneous group of acquired clonal bone marrow disorders, characterised by ineffective hematopoiesis. The mechanisms underlying many of these blood disorders have remained elusive due to the difficulty in pinpointing specific gene mutations or haplo-insufficencies, which can occur within large deleted regions. However, there is an increasing interest in the classification of some of these diseases as ribosomopathies. Indeed, studies have implicated Ribosomal Protein (RP) S14 as a strong candidate for haploinsufficiency in 5q- syndrome, a particular form of MDS. Recently, two novel mouse models have provided evidence for the involvement of both RPS14 and the p53 pathway, and specific miRNAs in 5q- syndrome. In this review we will discuss: 5q- syndrome mouse models, the possible mechanisms underlying this blood disorder with respect to the candidate genes and comparisons with other ribosomopathies and the involvement of the p53 pathway in these diseases. |
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Authors:
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Jillian L Barlow; Lesley F Drynan; Nicola L Trim; Wendy N Erber; Alan J Warren; Andrew N J McKenzie |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-11-22 |
Journal Detail:
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Title: Cell cycle (Georgetown, Tex.) Volume: 9 ISSN: 1551-4005 ISO Abbreviation: Cell Cycle Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-11-08 Completed Date: 2011-02-22 Revised Date: 2011-08-03 |
Medline Journal Info:
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Nlm Unique ID: 101137841 Medline TA: Cell Cycle Country: United States |
Other Details:
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Languages: eng Pagination: 4286-93 Citation Subset: IM |
Affiliation:
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MRC Laboratory of Molecular Biology, Cambridge, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anemia, Macrocytic
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genetics,
metabolism Animals Antigens, Differentiation, B-Lymphocyte / genetics, physiology Chromosome Deletion Chromosomes, Human, Pair 5 / genetics, metabolism Disease Models, Animal Histocompatibility Antigens Class II / genetics, physiology Humans Membrane Proteins / genetics, physiology Mice MicroRNAs / metabolism Neoplasm Proteins / genetics, physiology RNA Interference Ribosomal Proteins / genetics, metabolism* Tumor Suppressor Protein p53 / genetics, metabolism |
| Grant Support | |
ID/Acronym/Agency:
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//Medical Research Council |
| Chemical | |
Reg. No./Substance:
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0/2010002N04Rik protein, mouse; 0/Antigens, Differentiation, B-Lymphocyte; 0/Histocompatibility Antigens Class II; 0/Membrane Proteins; 0/MicroRNAs; 0/Neoplasm Proteins; 0/RPS14 protein, human; 0/Ribosomal Proteins; 0/Tumor Suppressor Protein p53; 0/invariant chain |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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