The telomere syndromes

被引：713

作者：

Armanios, Mary ^{[1
,2
]}

Blackburn, Elizabeth H. ^{[3
]}

机构：

[1] Johns Hopkins Univ, Dept Oncol, Sch Med, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21218 USA

[2] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA

[3] Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94158 USA

来源：

NATURE REVIEWS GENETICS | 2012年 / 13卷 / 10期

基金：

美国国家卫生研究院;

关键词：

HEMATOPOIETIC STEM-CELLS; BONE-MARROW FAILURE; LINKED DYSKERATOSIS-CONGENITA; MAINTENANCE COMPONENT 1; APLASTIC-ANEMIA; REVERSE-TRANSCRIPTASE; DYSFUNCTIONAL TELOMERES; TERMINAL TRANSFERASE; TUMOR SUPPRESSION; RNA COMPONENT;

D O I：

10.1038/nrg3246

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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.

引用

页码：693 / 704

页数：12

共 127 条

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