Syndromes of telomere shortening.
Syndromes of telomere shortening.
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DOI：
10.1146/annurev-genom-082908-150046
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发表时间：
2009
影响因子：
8.7
通讯作者：
Armanios M
中科院分区：
文献类型：
--
作者：
Armanios M
端粒和端粒酶最初是在寻找染色体末端如何维持的问题时发现的。近年来，随着一组端粒介导的综合征的认识，这些发现对年龄相关疾病的影响已经出现。端粒介导的疾病最初是在先天性角化不良的背景下确定的，先天性角化不良是一种罕见的早衰综合征。最近，在特发性肺纤维化成人中发现了端粒酶组分的突变。这些研究结果表明，端粒介导的疾病的谱是广泛的，包括儿童和成人的临床表现。我们以前曾提出，这些疾病被集体认为是端粒缩短综合征。在这里，这些疾病的光谱和独特的端粒遗传学的基础上，他们进行审查。我还提出了更广泛的定义端粒介导的先天性角化不良以外的综合征的临床标准，其目的是促进他们的诊断和突出他们的病理生理。
Telomeres and telomerase were initially discovered in pursuit of questions about how the ends of chromosomes are maintained. The implications of these discoveries to age-related disease have emerged in recent years with the recognition of a group of telomere-mediated syndromes. Telomere-mediated disease was initially identified in the context of dyskeratosis congenita, a rare syndrome of premature aging. More recently, mutations in telomerase components were identified in adults with idiopathic pulmonary fibrosis. These findings have revealed that the spectrum of telomere-mediated disease is broad and includes clinical presentations in both children and adults. We have previously proposed that these disorders be collectively considered as syndromes of telomere shortening. Here, the spectrum of these disorders and the unique telomere genetics that underlies them are reviewed. I also propose broader clinical criteria for defining telomere-mediated syndromes outside of dyskeratosis congenita, with the goal of facilitating their diagnosis and highlighting their pathophysiology.
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影响因子：
1.3
作者：
de la Fuente, J.;Dyskeratosis, Dokal I.
通讯作者：
Dyskeratosis, Dokal I.
影响因子：
168.9
作者：
Fogarty, PF;Yamaguchi, H;Young, NS
通讯作者：
Young, NS
DOI：
10.1164/rccm.200804-550oc
发表时间：
2008-10-01
影响因子：
24.7
作者：
Cronkhite, Jennifer T.;Xing, Chao;Garcia, Christine Kim
通讯作者：
Garcia, Christine Kim
影响因子：
56.9
作者：
FENG, JL;FUNK, WD;VILLEPONTEAU, B
通讯作者：
VILLEPONTEAU, B
影响因子：
50.3
作者：
Feldser, David M.;Greider, Carol W.
通讯作者：
Greider, Carol W.