Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
|
10583221 |
1999 |
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In order to further characterise the disease at the molecular level, male DC patients from 25 families were screened for mutations in the DKC1 gene.
|
11379875 |
2001 |
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Five different missense mutations in five unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC (DKC1).
|
9590285 |
1998 |
X-Linked Dyskeratosis Congenita
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC.
|
10583221 |
1999 |
X-Linked Dyskeratosis Congenita
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dyskeratosis Congenita (DC) Registry: identification of new features of DC.
|
9886310 |
1998 |
X-Linked Dyskeratosis Congenita
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
X-Linked Dyskeratosis Congenita
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
X-Linked Dyskeratosis Congenita
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
|
11379875 |
2001 |
X-Linked Dyskeratosis Congenita
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
|
9590285 |
1998 |
HOYERAAL-HREIDARSSON SYNDROME
|
0.550 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
|
10583221 |
1999 |
HOYERAAL-HREIDARSSON SYNDROME
|
0.550 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
|
10364516 |
1999 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Instead of the conventional gene-specific approach with Sanger sequencing, we used whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c.146C>T, p.Thr49Me) in DKC1.
|
24914498 |
2014 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in DKC1 gene encoding dyskerin are responsible for the X-linked dyskeratosis congenita.
|
15304085 |
2004 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.
|
19879169 |
2010 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel mutation in DKC1 in dyskeratosis congenita.
|
18802941 |
2009 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Pinpointing impaired interaction between NAP57 and SHQ1 as a potential molecular basis for X-linked DC has implications for therapeutic approaches, e.g. by targeting the NAP57-SHQ1 interface with small molecules.
|
19734544 |
2009 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In contrast, mutation of dyskerin (DKC1) in X-linked dyskeratosis congenita severely impairs telomerase activity by blocking telomerase assembly and disrupts telomere elongation during reprogramming.
|
21602826 |
2011 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
X-linked dyskeratosis congenita in Malaysia.
|
17417794 |
2008 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
|
9590285 |
1998 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Boys with unexplained AA or immunodeficiency should be tested for mutations in DKC1 even though they may lack diagnostic features of DC.
|
10583221 |
1999 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
|
12437656 |
2002 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.
|
25219674 |
2014 |
X-Linked Dyskeratosis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined.
|
10364516 |
1999 |