端粒
生物
疾病
先天性角化不良
肺纤维化
遗传学
生物信息学
纤维化
病理
医学
DNA
作者
Mary Armanios,Elizabeth H. Blackburn
摘要
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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