Telomeropathies: An emerging spectrum disorder

被引：122

作者：

Holohan, Brody ^{[1
]}

Wright, Woodring E. ^{[1
]}

Shay, Jerry W. ^{[1
]}

机构：

[1] Univ Texas SW Med Ctr Dallas, Dept Cell Biol, Dallas, TX 75390 USA

来源：

JOURNAL OF CELL BIOLOGY | 2014年 / 205卷 / 03期

基金：

美国国家卫生研究院;

关键词：

BONE-MARROW FAILURE; DOMINANT DYSKERATOSIS-CONGENITA; IDIOPATHIC PULMONARY-FIBROSIS; HOYERAAL-HREIDARSSON SYNDROME; TELOMERASE REVERSE-TRANSCRIPTASE; APLASTIC-ANEMIA; POLY(ADP-RIBOSE) POLYMERASE; MAMMALIAN TELOMERES; DUPLEX REPLICATION; TINF2; MUTATION;

D O I：

10.1083/jcb.201401012

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

A constellation of related genetic diseases are caused by defects in the telomere maintenance machinery. These disorders, often referred to as telomeropathies, share symptoms and molecular mechanisms, and mounting evidence indicates they are points along a spectrum of disease. Several new causes of these disorders have been recently discovered, and a number of related syndromes may be unrecognized telomeropathies. Progress in the clinical understanding of telomeropathies has in turn driven progress in the basic science of telomere biology. In addition, the pattern of genetic anticipation in some telomeropathies generates thought-provoking questions about the way telomere length impacts the course of these diseases.

引用

页码：289 / 299

页数：11

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