DKC1 gene

Known as: H/ACA ribonucleoprotein complex subunit 4, NOPP140-ASSOCIATED PROTEIN, 57-KD, XAP101 
This gene is involved in both H/ACA small nucleolar RNA ribonucleoprotein assembly and telomerase stabilization and maintenance.
National Institutes of Health

Papers overview

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2013
2013
Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance… (More)
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Highly Cited
2007
Highly Cited
2007
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere… (More)
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2005
Highly Cited
2005
BACKGROUND Mutations in TERC, the gene for the RNA component of telomerase, cause short telomeres in congenital aplastic anemia… (More)
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Highly Cited
2005
Highly Cited
2005
The satellite sequences (AGGGAG)(n) and Ty3/gypsy-like retrotransposons are known to localize at the barley centromeres. Using a… (More)
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2001
Highly Cited
2001
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation… (More)
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1999
Highly Cited
1999
Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail… (More)
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Highly Cited
1999
Highly Cited
1999
Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA… (More)
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1999
Highly Cited
1999
The X-linked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in the gene encoding dyskerin… (More)
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Highly Cited
1998
Highly Cited
1998
X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening… (More)
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1997
1997
The protein products of two yeast Saccharomyces cerevisiae genes (YNL292w and CBF5) display a remarkable sequence homology with… (More)
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