×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
Biomarker
disease
BEFREE
Loss of function of dyskerin (DKC1), NOP10 and TIN2 are responsible for different inheritance patterns of Dyskeratosis congenita (DC; ORPHA1775).
29055871
2018
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
Biomarker
disease
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
Biomarker
disease
GENOMICS_ENGLAND
The telomere syndromes.
22965356
2012
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
Biomarker
disease
BEFREE
Structure of the Shq1-Cbf5-Nop10 -Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita .
22117216
2011
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
GeneticVariation
disease
BEFREE
We found that the most prevalent dyskerin mutation in DC (A353V ) did not affect formation of the NAF1-dyskerin-NOP10 -NHP2 tetramer that normally assembles with nascent H/ACA RNAs in vivo.
20008900
2010
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
GeneticVariation
disease
BEFREE
Telomerase complex genes mutations (DKC1, TERC, TERT, and NOP10 ) lead to premature telomere shortening and are responsible for different forms of dyskeratosis congenita .
18989882
2009
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
GeneticVariation
disease
BEFREE
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10 , but approximately 60% of DC patients lack an identifiable mutation.
18252230
2008
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
GeneticVariation
disease
LHGDN
However, we show that NOP10 , a component of H/ACA snoRNP complexes including telomerase is mutated in a large consanguineous family with classical DC .
17507419
2007
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
Biomarker
disease
GENOMICS_ENGLAND
However, we show that NOP10 , a component of H/ACA snoRNP complexes including telomerase is mutated in a large consanguineous family with classical DC .
17507419
2007
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
GeneticVariation
disease
BEFREE
However, we show that NOP10 , a component of H/ACA snoRNP complexes including telomerase is mutated in a large consanguineous family with classical DC .
17507419
2007
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
Biomarker
disease
BEFREE
Crystal structure of a Cbf5-Nop10 -Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita .
16427014
2006
×
Entrez Id:
55505
Gene Symbol:
NOP10
NOP10
0.470
CausalMutation
disease
CLINVAR