Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.
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The coding/non-coding overlapping architecture of the gene encoding the Drosophila pseudouridine synthaseSmall RNAs with big implications: new insights into H/ACA snoRNA function and their role in human diseaseMouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processingSlow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerinLoss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethalityStructure-function relationships of archaeal Cbf5 during in vivo RNA-guided pseudouridylation.Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues.Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organizationDyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance.Dyskerin ablation in mouse liver inhibits rRNA processing and cell division.When ribosomes go bad: diseases of ribosome biogenesis.Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.The dyskerin ribonucleoprotein complex as an OCT4/SOX2 coactivator in embryonic stem cells.SnoRNA microarray analysis reveals changes in H/ACA and C/D RNA levels caused by dyskerin ablation in mouse liver.The many facets of H/ACA ribonucleoproteinsPseudouridine formation in archaeal RNAs: The case of Haloferax volcanii.Novel perspective: focusing on the X chromosome in reproductive cancers.Telomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling.The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.Native gel electrophoresis of human telomerase distinguishes active complexes with or without dyskerin.Dyskeratosis congenita and the DNA damage response.A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.Reactivation of the inactive X chromosome in development and reprogrammingNucleolus, ribosomes, and cancerDyskeratosis congenita, stem cells and telomeres.Variable expression of Dkc1 mutations in miceTelomere dysfunction in human diseases: the long and short of it!Concise Review: Getting to the Core of Inherited Bone Marrow Failures.The role of telomere shortening in somatic stem cells and tissue aging: lessons from telomerase model systems.Regulation of snoRNAs in cancer: close encounters with interferon.Emerging roles of nucleolar and ribosomal proteins in cancer, development, and aging.Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.Quantification of Pseudouridine Levels in Cellular RNA Pools with a Modified HPLC-UV Assay.POT of gold: modeling dyskeratosis congenita in the mouse.Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations.Linking pseudouridine synthases to growth, development and cell competition.
P2860
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P2860
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Targeted disruption of Dkc1, t ...... s embryonic lethality in mice.
@en
Targeted disruption of Dkc1, t ...... s embryonic lethality in mice.
@nl
type
label
Targeted disruption of Dkc1, t ...... s embryonic lethality in mice.
@en
Targeted disruption of Dkc1, t ...... s embryonic lethality in mice.
@nl
prefLabel
Targeted disruption of Dkc1, t ...... s embryonic lethality in mice.
@en
Targeted disruption of Dkc1, t ...... s embryonic lethality in mice.
@nl
P2093
P2860
P356
P1433
P1476
Targeted disruption of Dkc1, t ...... s embryonic lethality in mice.
@en
P2093
Inderjeet Dokal
Monica Bessler
Murek Jasinski
Philip J Mason
Sandra Navarrete
Tom Vulliamy
P2860
P2888
P304
P356
10.1038/SJ.ONC.1205969
P407
P577
2002-10-01T00:00:00Z