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.
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.
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.
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.
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.
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.
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).
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.
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.
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.
Am J Respir Crit Care Med. 2015 Mar 15;191(6):646-55. doi: 10.1164/rccm.201408-1510OC.
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