Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
about
Short telomeres initiate telomere recombination in primary and tumor cellsA subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traitsIdentification of ATPases pontin and reptin as telomerase components essential for holoenzyme assemblyTINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromesDynamic association and localization of human H/ACA RNP proteinsGenetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10The genetics of dyskeratosis congenitaTelomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cellsGenetic interstitial lung diseaseThe telomere syndromesProgerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblastsLung cancer susceptibility locus at 5p15.33The telomerase databaseMutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenitaTINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenitaTelomeres in aging and disease: lessons from zebrafishGuardian of the Human Genome: Host Defense Mechanisms against LINE-1 RetrotranspositionUnderstanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed LungsThe short and long telomere syndromes: paired paradigms for molecular medicineIt all comes together at the ends: telomerase structure, function, and biogenesisTelomerase and idiopathic pulmonary fibrosisShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyCellular mechanisms of tissue fibrosis. 7. New insights into the cellular mechanisms of pulmonary fibrosisThe genetics of pulmonary arterial hypertensionShort Telomeres in Key Tissues Initiate Local and Systemic Aging in ZebrafishVariation at the TERT locus and predisposition for cancerTelomerase inhibition targets clonogenic multiple myeloma cells through telomere length-dependent and independent mechanismsProtein composition of catalytically active human telomerase from immortal cellsCell biology of disease: Telomeropathies: an emerging spectrum disorderWorkshop on idiopathic pulmonary fibrosis in older adultsLoss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaMany disease-associated variants of hTERT retain high telomerase enzymatic activityInventory of telomerase components in human cells reveals multiple subpopulations of hTR and hTERT.Mutation of the TERT promoter, switch to active chromatin, and monoallelic TERT expression in multiple cancersCRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs.Realizing the promise of cancer predisposition genes.A spectrum of severe familial liver disorders associate with telomerase mutations.Dyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance.Telomeres and disease.Current diagnosis of inherited bone marrow failure syndromes.
P2860
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P2860
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@ast
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@en
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@nl
type
label
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@ast
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@en
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@nl
prefLabel
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@ast
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@en
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@nl
P2093
P2860
P50
P3181
P356
P1476
Haploinsufficiency of telomera ...... ominant dyskeratosis congenita
@en
P2093
Alan R Cohen
Anita Hawkins
Aravinda Chakravarti
Constance A Griffin
James R Eshleman
Robert A Brodsky
Yen-Pei Christy Chang
P2860
P304
15960-15964
P3181
P356
10.1073/PNAS.0508124102
P407
P577
2005-10-24T00:00:00Z