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Epigenetic inheritance of telomere length obscures identification of causative PARN locus.

作者信息

Xing Chao, Garcia Christine Kim

机构信息

Eugene McDermott Center for Human Growth and Development, Dallas, Texas, USA Department of Clinical Sciences, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Eugene McDermott Center for Human Growth and Development, Dallas, Texas, USA Department of Internal Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.

出版信息

J Med Genet. 2016 May;53(5):356-8. doi: 10.1136/jmedgenet-2015-103685. Epub 2016 Feb 23.

Abstract
摘要

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本文引用的文献

1
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.
2
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.
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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.
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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.
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Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
Nat Genet. 2014 Jul;46(7):731-5. doi: 10.1038/ng.3004. Epub 2014 Jun 8.
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Adult-onset pulmonary fibrosis caused by mutations in telomerase.
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Telomerase mutations in families with idiopathic pulmonary fibrosis.
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