| Molecular pathogenesis in Diamond-Blackfan anemia. | |
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MedLine Citation:
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PMID: 20882441 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Diamond-Blackfan anemia (DBA) is a congenital anemia and a broad spectrum of developmental abnormalities that presents soon after birth. The anemia is due to a failure of erythropoiesis with normal platelet and myeloid lineages. Approximately 10-20% of DBA cases are inherited. Genetic studies have identified heterozygous mutations in at least one of eight ribosomal protein genes in up to 50% of cases. Mutations in RPL5 and RPL11 are at a high risk for developing malformation. Especially, mutations in RPL5 are associated with multiple physical abnormalities, including cleft lip/plate and thumb and heart anomalies. Recently, the 5q- syndrome, a subtype of myelodysplastic syndrome characterized by a defect in erythroid differentiation, is caused by a somatically acquired deletion of chromosome 5q, which results in haploinsufficiency of RPS14. These data indicate that abnormalities in ribosome function are broadly implicated in both congenital and acquired bone marrow failure syndrome in humans. |
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Authors:
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Etsuro Ito; Yuki Konno; Tsutomu Toki; Kiminori Terui |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-09-30 |
Journal Detail:
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Title: International journal of hematology Volume: 92 ISSN: 1865-3774 ISO Abbreviation: Int. J. Hematol. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-10-06 Completed Date: 2011-01-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111627 Medline TA: Int J Hematol Country: United States |
Other Details:
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Languages: eng Pagination: 413-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Hirosaki University Graduate School of Medicine, Aomori, Japan. eturou@cc.hirosaki-u.ac.jp |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anemia, Diamond-Blackfan
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diagnosis,
genetics*,
pathology,
physiopathology* Animals Chromosome Deletion Chromosomes, Human, Pair 5 / genetics Erythropoiesis Humans Mutation Ribosomal Proteins / genetics Ribosomes / genetics, pathology |
| Chemical | |
Reg. No./Substance:
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0/Ribosomal Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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