Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
about
The coding/non-coding overlapping architecture of the gene encoding the Drosophila pseudouridine synthaseThe human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNAMitotic spindle destabilization and genomic instability in Shwachman-Diamond syndromeA human telomerase holoenzyme protein required for Cajal body localization and telomere synthesisThe genetics of dyskeratosis congenitaTelomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cellsMutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenitaTelomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenitaCrystal structure determination and site-directed mutagenesis of the Pyrococcus abyssi aCBF5-aNOP10 complex reveal crucial roles of the C-terminal domains of both proteins in H/ACA sRNP activity.Multi-OMICs and Genome Editing Perspectives on Liver Cancer Signaling NetworksStructure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenitaDiverse diseases from a ubiquitous process: the ribosomopathy paradoxSpecific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome EngineeringA homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognitionVariation at the TERT locus and predisposition for cancerOptimization of ribosome structure and function by rRNA base modificationSlow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerinTelomeres and human disease: ageing, cancer and beyondSingle-molecule real-time detection of telomerase extension activityDrosophila dyskerin is required for somatic stem cell homeostasis.Dyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance.Analysis of small nucleolar RNAs reveals unique genetic features in malaria parasites.Dyskerin ablation in mouse liver inhibits rRNA processing and cell division.Quantitative nucleolar proteomics reveals nuclear re-organization during stress- induced senescence in mouse fibroblast.Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis.On the road with WRAP53β: guardian of Cajal bodies and genome integrityWhen ribosomes go bad: diseases of ribosome biogenesis.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Dyskerin overexpression in human hepatocellular carcinoma is associated with advanced clinical stage and poor patient prognosisUnraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderThe dyskerin ribonucleoprotein complex as an OCT4/SOX2 coactivator in embryonic stem cells.Animal models of Diamond Blackfan anemia.The many facets of H/ACA ribonucleoproteinsDyskerin is required for tumor cell growth through mechanisms that are independent of its role in telomerase and only partially related to its function in precursor rRNA processing.Expression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells.Identification of non-coding RNAs associated with telomeres using a combination of enChIP and RNA sequencingDyskeratosis congenita as a disorder of telomere maintenance.
P2860
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P2860
Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
description
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 2004
@ast
im Juli 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/07/20)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/07/20)
@nl
наукова стаття, опублікована в липні 2004
@uk
name
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@ast
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@en
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@nl
type
label
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@ast
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@en
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@nl
prefLabel
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@ast
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@en
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@nl
P2093
P2860
P3181
P356
P1476
Mouse dyskerin mutations affec ...... , and ribosomal RNA processing
@en
P2093
Monica Bessler
Philip J. Mason
Shashikant Kulkarni
Yuko Mochizuki
P2860
P304
10756–10761
P3181
P356
10.1073/PNAS.0402560101
P407
P577
2004-07-20T00:00:00Z