Journal
NATURE REVIEWS GENETICS
Volume 13, Issue 10, Pages 693-704Publisher
NATURE RESEARCH
DOI: 10.1038/nrg3246
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Funding
- US National Institutes of Health Heart, Lung and Blood Institute (NHLBI)
- US National Cancer Institute (NCI)
- Maryland Stem Cell and Flight Attendants Medical Research Foundations
- US National Institute of General Medical Sciences (NIGMS)
- NCI
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There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes.
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