Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
about
Genetic interstitial lung diseaseIt all comes together at the ends: telomerase structure, function, and biogenesisTelomerase and idiopathic pulmonary fibrosisA novel dyskerin (DKC1) mutation is associated with familial interstitial pneumoniaLoss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaLoss of Drosophila pseudouridine synthase triggers apoptosis-induced proliferation and promotes cell-nonautonomous EMT.The diagnosis and treatment of dyskeratosis congenita: a review.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderTelomere length is a determinant of emphysema susceptibility.Dyskeratosis congenita as a disorder of telomere maintenance.Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.Native gel electrophoresis of human telomerase distinguishes active complexes with or without dyskerin.Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis.Telomeres and age-related disease: how telomere biology informs clinical paradigmsTelomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) geneSystematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.Common variable immunodeficiency as the initial presentation of dyskeratosis congenita.Diagnostic utility of telomere length testing in a hospital-based setting.p53 pathway activation by telomere attrition in X-DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage.
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P2860
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
description
2011 nî lūn-bûn
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2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@ast
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@en
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@nl
type
label
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@ast
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@en
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@nl
prefLabel
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@ast
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@en
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@nl
P2093
P2860
P356
P1476
Decreased dyskerin levels as a ...... linked dyskeratosis congenita.
@en
P2093
Erin M Parry
James E Loyd
John A Phillips
Jonathan K Alder
Priya Duggal
Stella S Lee
P2860
P304
P356
10.1136/JMG.2010.085100
P407
P577
2011-03-17T00:00:00Z