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1
The telomere syndromes.端粒综合征。
Nat Rev Genet. 2012 Oct;13(10):693-704. doi: 10.1038/nrg3246. Epub 2012 Sep 11.
2
Extrahematopoietic manifestations of the short telomere syndromes.短端粒综合征的造血外表现。
Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):115-122. doi: 10.1182/hematology.2020000170.
3
Cell biology of disease: Telomeropathies: an emerging spectrum disorder.疾病的细胞生物学:端粒病:一种新兴的综合征疾病。
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4
The molecular genetics of the telomere biology disorders.端粒生物学障碍的分子遗传学
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5
Telomeres and age-related disease: how telomere biology informs clinical paradigms.端粒与年龄相关性疾病:端粒生物学如何影响临床模式。
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Syndromes of telomere shortening.端粒缩短综合征
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Human telomeres and telomere biology disorders.人类端粒与端粒生物学紊乱
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Recent progress in dyskeratosis congenita.先天性角化不良症的最新进展。
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The wide-ranging clinical implications of the short telomere syndromes.短端粒综合征广泛的临床意义。
Intern Med J. 2016 Apr;46(4):393-403. doi: 10.1111/imj.12868.

引用本文的文献

1
Causality between telomere length and breast diseases: a two-sample bidirectional Mendelian randomization study.端粒长度与乳腺疾病之间的因果关系:一项两样本双向孟德尔随机化研究。
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Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis.端粒损耗成为衰老造血和白血病发生过程中克隆选择的一种机制。
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Telomere Crisis Shapes Cancer Evolution.端粒危机塑造癌症进化。
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Mechanisms and therapeutic strategies linking mesenchymal stem cells senescence to osteoporosis.将间充质干细胞衰老与骨质疏松症联系起来的机制及治疗策略。
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Targeting the hallmarks of aging: mechanisms and therapeutic opportunities.靶向衰老特征:机制与治疗机遇
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Association of peripheral leukocyte telomere length with patients with rheumatoid arthritis with a focus on interstitial lung disease.外周血白细胞端粒长度与类风湿关节炎患者的关联,重点关注间质性肺疾病。
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Use of Telomere Length as a Biomarker in Idiopathic Pulmonary Fibrosis.端粒长度作为特发性肺纤维化生物标志物的应用。
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Leukocyte telomere length and birth characteristics associated with obesity in infancy in a predominantly Latinx cohort.在一个以拉丁裔为主的队列中,白细胞端粒长度和出生特征与婴儿期肥胖相关。
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本文引用的文献

1
CTC1 Mutations in a patient with dyskeratosis congenita.先天性角化不良患者的 CTC1 突变。
Pediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24.
2
CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion.CTC1 缺失导致端粒复制缺陷,导致灾难性的端粒丢失和干细胞耗竭。
EMBO J. 2012 May 16;31(10):2309-21. doi: 10.1038/emboj.2012.96. Epub 2012 Apr 24.
3
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.CTCl 基因突变导致伴有钙化和囊肿的脑视网膜微动脉病。
Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.
4
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.CTC1 基因突变导致 Coats 病-plus 综合征。
Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.
5
Five dysfunctional telomeres predict onset of senescence in human cells.五个功能失调的端粒可预测人类细胞衰老的发生。
EMBO Rep. 2011 Dec 23;13(1):52-9. doi: 10.1038/embor.2011.227.
6
It all comes together at the ends: telomerase structure, function, and biogenesis.所有的一切都汇聚在末端:端粒酶的结构、功能和生物发生。
Mutat Res. 2012 Feb 1;730(1-2):3-11. doi: 10.1016/j.mrfmmm.2011.11.002. Epub 2011 Nov 7.
7
Telomerase and idiopathic pulmonary fibrosis.端粒酶与特发性肺纤维化。
Mutat Res. 2012 Feb 1;730(1-2):52-8. doi: 10.1016/j.mrfmmm.2011.10.013. Epub 2011 Nov 4.
8
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.端粒长度与先天性角化不良的疾病严重程度相关,并随年龄增长而缩短。
Haematologica. 2012 Mar;97(3):353-9. doi: 10.3324/haematol.2011.055269. Epub 2011 Nov 4.
9
Is telomerase a viable target in cancer?端粒酶在癌症中是否是一个可行的靶点?
Mutat Res. 2012 Feb 1;730(1-2):90-7. doi: 10.1016/j.mrfmmm.2011.07.006. Epub 2011 Jul 23.
10
Telomere length is a determinant of emphysema susceptibility.端粒长度是肺气肿易感性的决定因素。
Am J Respir Crit Care Med. 2011 Oct 15;184(8):904-12. doi: 10.1164/rccm.201103-0520OC. Epub 2011 Jul 14.

端粒综合征。

The telomere syndromes.

机构信息

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

出版信息

Nat Rev Genet. 2012 Oct;13(10):693-704. doi: 10.1038/nrg3246. Epub 2012 Sep 11.

DOI:10.1038/nrg3246
PMID:22965356
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3548426/
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.

摘要

越来越多的证据表明端粒功能障碍在许多退行性疾病中起着因果作用。它们的表现包括特发性肺纤维化和骨髓衰竭等常见疾病状态。虽然这些疾病在临床上似乎各不相同,但它们共同构成了一个单一的综合征谱,其特征是端粒缺陷短。在这里,我们回顾端粒综合征的表现和独特的遗传学。我们还讨论了它们的潜在分子机制及其对理解常见与年龄相关的疾病过程的意义。