| Genetic and environmental factors influencing human diseases with telomere dysfunction. | |
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MedLine Citation:
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PMID: 19684885 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Both genetic and environmental factors have been implicated in the mechanism underlying the pathogenesis of serious and fatal forms of human blood disorder (acquired aplastic anemia, AA) and lung disease (idiopathic pulmonary fibrosis, IPF). We and other researchers have recently shown that naturally occurring mutations in genes encoding the telomere maintenance complex (telomerase) may predispose patients to the development of AA or IPF. Epidemiological data have shown that environmental factors can also cause and/or exacerbate the pathogenesis of these diseases. The exact mechanisms that these germ-line mutations in telomere maintenance genes coupled with environmental insults lead to ineffective hematopoiesis in AA and lung scarring in IPF are not well understood, however. In this article, we provide a summary of evidence for environmental and genetic factors influencing the diseases. These studies provide important insights into the interplay between environmental and genetic factors leading to human diseases with telomere dysfunction. |
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Authors:
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Hinh Ly |
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Publication Detail:
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Type: Journal Article Date: 2009-05-31 |
Journal Detail:
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Title: International journal of clinical and experimental medicine Volume: 2 ISSN: 1940-5901 ISO Abbreviation: Int J Clin Exp Med Publication Date: 2009 |
Date Detail:
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Created Date: 2009-08-17 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101471010 Medline TA: Int J Clin Exp Med Country: United States |
Other Details:
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Languages: eng Pagination: 114-30 Citation Subset: - |
Affiliation:
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Department of Pathology and Laboratory Medicine, Emory University Atlanta, GA 30322, USA. |
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