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Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

Journal of Medical Genetics

Mar 19, 2011

Erin M ParryMary Armanios

Abstract

Dyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres. An X-linked form of DC is caused by mutations in DKC1 which encodes dyskerin, a telomerase component that is essential for telomerase RNA stability. However, mutations in DKC1 are identifiable i...read more

Mentioned in this Paper

DKC1 gene
Telomere Shortening
Lyon Hypothesis
Regulatory Elements, Transcriptional
Premature Aging Syndrome
Genetic Linkage
Locus
Telomerase Catalytic Subunit
X-linked Inheritance
Cell Cycle Proteins
2
32
Paper Details
References
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  • Citations23
  • References43
  • Citations23
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Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

Journal of Medical Genetics

Mar 19, 2011

Erin M ParryMary Armanios

PMID: 21415081

DOI: 10.1136/jmg.2010.085100

Abstract

Dyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres. An X-linked form of DC is caused by mutations in DKC1 which encodes dyskerin, a telomerase component that is essential for telomerase RNA stability. However, mutations in DKC1 are identifiable i...read more

Mentioned in this Paper

DKC1 gene
Telomere Shortening
Lyon Hypothesis
Regulatory Elements, Transcriptional
Premature Aging Syndrome
Genetic Linkage
Locus
Telomerase Catalytic Subunit
X-linked Inheritance
Cell Cycle Proteins
2
32

Similar Papers Found In These Feeds

Related Papers

Paper Details
References
  • References43
  • Citations23
  • References43
  • Citations23
123
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