Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families.
作者信息
Kropski Jonathan A, Reiss Sara, Markin Cheryl, Brown Kevin K, Schwartz David A, Schwarz Marvin I, Loyd James E, Phillips John A, Blackwell Timothy S, Cogan Joy D
机构信息
1 Vanderbilt University Medical Center Nashville, Tennessee.
2 National Jewish Health Denver, Colorado.
出版信息
Am J Respir Crit Care Med. 2017 Dec 1;196(11):1481-1484. doi: 10.1164/rccm.201703-0635LE.
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
Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.特发性肺纤维化患者及其家系的基因评估与检测
Am J Respir Crit Care Med. 2017 Jun 1;195(11):1423-1428. doi: 10.1164/rccm.201609-1820PP.
3
Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease.TERC的转录后调控可逆转端粒疾病的分子特征。
J Clin Invest. 2016 Sep 1;126(9):3377-82. doi: 10.1172/JCI87547. Epub 2016 Aug 2.
4
Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects.端粒酶RNA降解的抑制可挽救由戴斯科林或PARN缺陷引起的端粒酶缺乏。
Nat Struct Mol Biol. 2016 Apr;23(4):286-92. doi: 10.1038/nsmb.3184. Epub 2016 Mar 7.
5
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.PARN 突变导致的霍耶拉尔 - 赫雷达尔松综合征：十四年随访
Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19.
6
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.
7
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).聚腺苷酸特异性核糖核酸酶（PARN）突变导致的骨髓衰竭和发育迟缓。
J Med Genet. 2015 Nov;52(11):738-48. doi: 10.1136/jmedgenet-2015-103292. Epub 2015 Sep 4.
8
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.聚腺苷酸特异性核糖核酸酶缺乏会影响端粒生物学并导致先天性角化不良。
J Clin Invest. 2015 May;125(5):2151-60. doi: 10.1172/JCI78963. Epub 2015 Apr 20.
9
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.
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。
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