The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
about
In vitro and ex vivo inhibition of human telomerase by anti-HIV nucleoside reverse transcriptase inhibitors (NRTIs) but not by non-NRTIsUnraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderExpression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells.Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domainInvestigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins.Clonal hematopoiesis in patients with dyskeratosis congenita.Cellular Detection of G-Quadruplexes by Optical Imaging Methods.[Dyskeratosis congenita: short telomeres are not the rule].
P2860
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P2860
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
The accumulation and not the s ...... linked dyskeratosis congenita.
@ast
The accumulation and not the s ...... linked dyskeratosis congenita.
@en
type
label
The accumulation and not the s ...... linked dyskeratosis congenita.
@ast
The accumulation and not the s ...... linked dyskeratosis congenita.
@en
prefLabel
The accumulation and not the s ...... linked dyskeratosis congenita.
@ast
The accumulation and not the s ...... linked dyskeratosis congenita.
@en
P2093
P2860
P356
P1476
The accumulation and not the s ...... linked dyskeratosis congenita.
@en
P2093
Blanche P Alter
Helen B Fleisig
Kyle R Hukezalie
Naresh R Thumati
Neelam Giri
Xi-Lei Zeng
P2860
P304
P356
10.1093/HMG/DDR504
P577
2011-11-04T00:00:00Z