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Dyskeratosis Congenita

Known as: DKC, Dyskeratosis Congenita [Disease/Finding], congenita dyskeratosis 
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous… 
National Institutes of Health

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Related topics

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Congenital AbnormalityIn BloodMicrobiologicalchemically induced

Narrower (3)

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANTHOYERAAL-HREIDARSSON SYNDROMEX-Linked Dyskeratosis Congenita

Papers overview

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Review
2009
Review
2009
Cancer in dyskeratosis congenita.
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this… 
Highly Cited
2006
Highly Cited
2006
Impaired Control of IRES-Mediated Translation in X-Linked Dyskeratosis Congenita
The DKC1 gene encodes a pseudouridine synthase that modifies ribosomal RNA (rRNA). DKC1 is mutated in people with X-linked… 
Highly Cited
2005
Highly Cited
2005
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from… 
Highly Cited
2004
Highly Cited
2004
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA… 
Highly Cited
2003
Highly Cited
2003
Association between telomere length in blood and mortality in people aged 60 years or older
Highly Cited
2003
Highly Cited
2003
Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification
Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by premature aging and increased tumor… 
Highly Cited
2001
Highly Cited
2001
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation… 
Review
2000
Review
2000
Dyskeratosis congenita in all its forms
Classic dyskeratosis congenita (DC) is an inherited disease characterized by the triad of abnormal skin pigmentation, nail… 
Highly Cited
1999
Highly Cited
1999
A telomerase component is defective in the human disease dyskeratosis congenita
The X-linked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in the gene encoding dyskerin… 
Highly Cited
1998
Highly Cited
1998
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening… 
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