The telomere syndromes

M Armanios, EH Blackburn - Nature Reviews Genetics, 2012 - nature.com
M Armanios, EH Blackburn
Nature Reviews Genetics, 2012nature.com
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 …
Abstract
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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