FAQ

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

Known as: DKCA1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, Dyskeratosis Congenita, Scoggins Type 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1982-2017
024619822017

Related topics

Related topics

18 relations
AlopeciaAnemiaAplastic AnemiaAtrophic condition of skin
(More)

Broader (1)

Dyskeratosis Congenita

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
Dental caries
Thrombocytopenia
Anemia
Autosomal dominant inheritance
Liver Cirrhosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
Dyskeratosis congenita (DC) and related syndromes are inherited, life-threatening bone marrow (BM) failure disorders, and… (More)
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Highly Cited
2013
Highly Cited
2013
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere… (More)
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2013
2013
DNA Damage Responses and Oxidative Stress in Dyskeratosis Congenita
Dyskeratosis congenita (DC) is an inherited multisystem disorder of premature aging, cancer predisposition, and bone marrow… (More)
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2013
2013
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance… (More)
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2013
2013
Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.
Mutations in the dyskerin gene (DKC1) cause X-linked dyskeratosis congenita (DC), a rare and fatal premature aging syndrome… (More)
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2012
2012
Zebrafish Models for Dyskeratosis Congenita Reveal Critical Roles of p53 Activation Contributing to Hematopoietic Defects through RNA Processing
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome in which hematopoietic defects are the main cause of mortality… (More)
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Highly Cited
2011
Highly Cited
2011
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short… (More)
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2010
2010
Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
Dyskeratosis congenita (DC) is a rare genetic syndrome that gives rise to a variety of disorders in affected individuals… (More)
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2009
2009
Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP.
Dyskeratosis congenita (DC) is an inherited disorder that implicates defects in the biology of telomeres, which are maintained by… (More)
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2003
2003
The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.
A novel human gene denominated TruB pseudouridine (psi) synthase homolog 1 (E. coli) (approved symbol, TRUB1) has been identified… (More)
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