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DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT

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

Papers overview

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2019
2019
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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Highly Cited
2013
Highly Cited
2013
Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere… Expand
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2013
2013
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
Abstract 2359 Introduction: Dyskeratosis congenita (DC) is an inherited multisystem disorder consisting of premature aging… Expand
Highly Cited
2011
Highly Cited
2011
Box H/ACA ribonucleoprotein particles (RNPs) mediate pseudouridine synthesis, ribosome formation, and telomere maintenance. The… Expand
2011
2011
Shq1 is a conserved protein required for the biogenesis of eukaryotic H/ACA ribonucleoproteins (RNPs), including human telomerase… Expand
Highly Cited
2010
Highly Cited
2010
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
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
The DKC1 gene encodes a pseudouridine synthase that modifies ribosomal RNA (rRNA). DKC1 is mutated in people with X-linked… Expand