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DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

Known as: DKCA1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DYSKERATOSIS CONGENITA, SCOGGINS TYPE 
 
National Institutes of Health

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18 relations
AlopeciaAnemiaAplastic AnemiaAtrophic condition of skin
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Broader (1)

Dyskeratosis Congenita

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Increased DKC1 expression in glioma and its significance in tumor cell proliferation, migration and invasion
SummaryThe dyskeratosis congenita 1 (DKC1) gene is located on the X chromosome at Xq28. Dyskerin encoded by the DKC1 gene is… Expand
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2015
2015
[Genotype analysis and telomere length measure in patients with dyskeratosis congenita].
OBJECTIVE To analysze genotype and measure telomere length in two Chinese patients with dyskeratosis congenita(DC). METHODS The… Expand
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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… Expand
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2013
2013
A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder caused by mutations in seven genes involved in telomere… Expand
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2012
2012
DNA Damage Responses and Oxidative Stress in Dyskeratosis Congenita.
Abstract 2359 Introduction: Dyskeratosis congenita (DC) is an inherited multisystem disorder consisting of premature aging… Expand
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Highly Cited
2011
Highly Cited
2011
Reconstitution and structural analysis of the yeast box H/ACA RNA-guided pseudouridine synthase.
Box H/ACA ribonucleoprotein particles (RNPs) mediate pseudouridine synthesis, ribosome formation, and telomere maintenance. The… Expand
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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… Expand
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2009
2009
Single-Molecule Analysis of the Human Telomerase RNA·Dyskerin Interaction and the Effect of Dyskeratosis Congenita Mutations†
It has been proposed that human telomerase RNA (hTR) interacts with dyskerin, prior to assembly of the telomerase holoenzyme. The… Expand
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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… Expand
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1999
1999
Dyskeratosis congenita: new clinical and molecular insights into ribosome function
 
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