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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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Related topics
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18 relations
Alopecia
Anemia
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Atrophic 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
Faan Miao
,
Kun Chu
,
+4 authors
Y. You
Investigational new drugs
2019
Corpus ID: 71147662
SummaryThe dyskeratosis congenita 1 (DKC1) gene is located on the X chromosome at Xq28. Dyskerin encoded by the DKC1 gene is…
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Highly Cited
2013
Highly Cited
2013
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
Bari J. Ballew
,
M. Yeager
,
+5 authors
S. Savage
Human Genetics
2013
Corpus ID: 3163892
Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere…
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2013
2013
A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.
S. Hisata
,
H. Sakaguchi
,
+6 authors
M. Ebina
Sarcoidosis Vasculities and Diffuse Lung Diseases
2013
Corpus ID: 21063484
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder caused by mutations in seven genes involved in telomere…
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2012
2012
DNA Damage Responses and Oxidative Stress in Dyskeratosis Congenita.
L. Pereboeva
,
E. Westin
,
+4 authors
F. Goldman
2012
Corpus ID: 208444100
Abstract 2359 Introduction: Dyskeratosis congenita (DC) is an inherited multisystem disorder consisting of premature aging…
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Highly Cited
2011
Highly Cited
2011
Reconstitution and structural analysis of the yeast box H/ACA RNA-guided pseudouridine synthase.
Shuang Li
,
Jingqi Duan
,
Dandan Li
,
Bing Yang
,
Mengqiu Dong
,
K. Ye
Genes & Development
2011
Corpus ID: 2536124
Box H/ACA ribonucleoprotein particles (RNPs) mediate pseudouridine synthesis, ribosome formation, and telomere maintenance. The…
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2011
2011
Structure of the Shq1–Cbf5–Nop10–Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita
Shuang Li
,
Jingqi Duan
,
Dandan Li
,
S. Ma
,
K. Ye
EMBO Journal
2011
Corpus ID: 15600996
Shq1 is a conserved protein required for the biogenesis of eukaryotic H/ACA ribonucleoproteins (RNPs), including human telomerase…
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Highly Cited
2010
Highly Cited
2010
Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
C. Trahan
,
C. Martel
,
F. Dragon
Human Molecular Genetics
2010
Corpus ID: 23765572
Dyskeratosis congenita (DC) is a rare genetic syndrome that gives rise to a variety of disorders in affected individuals…
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2009
2009
Single-Molecule Analysis of the Human Telomerase RNA·Dyskerin Interaction and the Effect of Dyskeratosis Congenita Mutations†
Beth Ashbridge
,
Á. Orte
,
+5 authors
S. Balasubramanian
Biochemistry
2009
Corpus ID: 14547155
It has been proposed that human telomerase RNA (hTR) interacts with dyskerin, prior to assembly of the telomerase holoenzyme. The…
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Highly Cited
2006
Highly Cited
2006
Impaired Control of IRES-Mediated Translation in X-Linked Dyskeratosis Congenita
A. Yoon
,
G. Peng
,
+4 authors
D. Ruggero
Science
2006
Corpus ID: 24416588
The DKC1 gene encodes a pseudouridine synthase that modifies ribosomal RNA (rRNA). DKC1 is mutated in people with X-linked…
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1999
1999
Dyskeratosis congenita: new clinical and molecular insights into ribosome function
J. McGrath
The Lancet
1999
Corpus ID: 490860
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