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Whole-Exome Sequencing Insights into Adult Pulmonary Fibrosis. Repeating the Telomere Theme.

作者信息

Garcia Christine Kim

机构信息

1 McDermott Center for Human Growth and Development and.

2 Department of Internal Medicine University of Texas Southwestern Medical Center Dallas, Texas.

出版信息

Am J Respir Crit Care Med. 2017 Jul 1;196(1):7-9. doi: 10.1164/rccm.201701-0194ED.

DOI:10.1164/rccm.201701-0194ED
PMID:28665198
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5519965/
Abstract
摘要

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本文引用的文献

1
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.一项评估罕见基因变异在肺纤维化中作用的外显子组测序研究。
Am J Respir Crit Care Med. 2017 Jul 1;196(1):82-93. doi: 10.1164/rccm.201610-2088OC.
2
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.疑似遗传性肺纤维化中 TERT 和 TERC 突变的流行情况和特征。
Eur Respir J. 2016 Dec;48(6):1721-1731. doi: 10.1183/13993003.02115-2015. Epub 2016 Nov 11.
3
Telomere dysfunction in alveolar epithelial cells causes lung remodeling and fibrosis.肺泡上皮细胞中端粒功能障碍导致肺重塑和纤维化。
JCI Insight. 2016 Sep 8;1(14):e86704. doi: 10.1172/jci.insight.86704.
4
Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.聚腺苷酸特异性核糖核酸酶（PARN）介导端粒酶RNA组分的3'末端成熟。
Nat Genet. 2015 Dec;47(12):1482-8. doi: 10.1038/ng.3423. Epub 2015 Oct 19.
5
Mice with Pulmonary Fibrosis Driven by Telomere Dysfunction.端粒功能障碍驱动的肺纤维化小鼠模型。
Cell Rep. 2015 Jul 14;12(2):286-99. doi: 10.1016/j.celrep.2015.06.028. Epub 2015 Jul 2.
6
Association between telomere length and survival in patients with idiopathic pulmonary fibrosis.特发性肺纤维化患者端粒长度与生存率之间的关联。
Respirology. 2015 Aug;20(6):947-52. doi: 10.1111/resp.12566. Epub 2015 Jun 14.
7
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.杂合性 RTEL1 突变与家族性肺纤维化有关。
Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28.
8
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.外显子组测序将PARN和RTEL1基因的突变与家族性肺纤维化及端粒缩短联系起来。
Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr 13.
9
OPTN/SRTR 2013 Annual Data Report: lung.OPTN/SRTR 2013 年度数据报告：肺。
Am J Transplant. 2015 Jan;15 Suppl 2:1-28. doi: 10.1111/ajt.13200.
10
Rare variants in RTEL1 are associated with familial interstitial pneumonia.RTEL1基因中的罕见变异与家族性间质性肺炎相关。
Am J Respir Crit Care Med. 2015 Mar 15;191(6):646-55. doi: 10.1164/rccm.201408-1510OC.