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Dysfunctional telomeres and dyskeratosis congenita.
Telomeres are specialized nucleoprotein structures at the end of chromosomes that protect the chromosomes from end-to-end fusion, degradation, and inappropriate recombination.[1][1],[2][2] In mostExpand
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Dyskerin, telomerase and the DNA damage response
The bone marrow failure syndrome Dyskeratosis congenita (DC), though rare, has attracted a great deal of attention in the last few years because it is caused by mutations in genes whose products areExpand
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Variations in reactive oxygen species between mouse strains.
Fig. 1. Variation in reactive oxygen species (ROS) generation in bone marrow, peripheral blood, and spleen fromWT andΔ15 C57/BL6, CAST, and/or DBAmice. (A) Total ROS accrual was measured using theExpand
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Phenotypic Rescue Of Induced Pluripotent Stem Cells From Dyskeratosis Congenita Patients By Ectopic Expression Of DKC1 But Not TERC
Telomerase is a ribonucleoprotein that adds telomeric repeats onto the chromosome ends, preventing the replication-dependent loss of telomere repeats and cellular senescence in highly proliferativeExpand
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Application of radiation hybrid in gene mapping
Radiation hybrid (RH) mapping technique was exploited to determine chromosome locations of 26 human novel full length cDNAs recently cloned. All these cDNA clones were isolated from human cord bloodExpand
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Unbalanced X Chromosome Inactivation Independent of Telomere Shortening in Mice Heterozygous for a Mutant Dyskerin Allele.
X-linked Dyskeratosis Congenita (DC) is a rare recessive disorder caused by mutations in the DKC1 gene that encodes dyskerin. Dyskerin is part of ribonucleoprotein complexes that participate in twoExpand