|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that mechanisms in addition to X chromosome inactivation, such as germline mosaicism or epigenetics, may contribute to DC-like phenotypes present in female DKC1 mutation carriers.
|
27570172 |
2016 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A significant feature of dyskeratosis congenita is an increased susceptibility to cancer; so far, however, no data have been reported on dyskerin changes in human tumours.
|
16841302 |
2006 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Despite harboring the same mutation in the DKC1 gene, one patient had significantly milder hematological symptoms than the other, indicating that there may be other factors that determine the severity of DC.
|
12186364 |
2002 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
|
15304085 |
2004 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
Dyskerin is a putative pseudouridine synthase, and it has been suggested that DKC may be caused by a defect in ribosomal RNA processing.
|
10591218 |
1999 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dyskerin harbors many mutations associated with dyskeratosis congenita.
|
25553844 |
2015 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The structure shows that dyskeratosis congenita mutations found in the CTE of human Cbf5 likely interfere with Shq1 binding.
|
22117216 |
2011 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
No differences in % subtelomeric, LINE-1, or pericentromeric methylation between patients with DC and relatives were noted except for an increase in % subtelomeric methylation in DC patients with a telomerase-complex mutation (TERC, TERT, DKC1, or TCAB1) (63.0% in DC vs. 61.8% in relatives, P = 0.03).
|
21981348 |
2012 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
The gene mutated in the X-linked form of human DC encodes for dyskerin, a nucleolar pseudourydilase that is involved in rRNA maturation.
|
15753647 |
2005 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC.
|
17785587 |
2007 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We propose that disruption of the dyskerin.hTR interaction may contribute to X-linked DC.
|
19835419 |
2009 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
The gene responsible for X-linked DC (DKC1) encodes a highly conserved protein called dyskerin that is believed to be essential in ribosome biogenesis and may also be involved in telomerase RNP assembly.
|
11259155 |
2001 |
|
Dyskeratosis Congenita
|
0.900 |
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 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.
|
21736606 |
2011 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
|
19734544 |
2009 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
Indeed, no induction of DNA damage was observed in dyskerin-depleted fibroblasts in contrast to X-DC or AD-DC fibroblasts suggesting that DNA damage induced by telomere attrition is responsible for p53 activation in X-DC and AD-DC fibroblasts.
|
24065372 |
2014 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Three genetic subtypes are recognized: X-linked recessive DC bears mutations in DKC1, the gene encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein particles; autosomal dominant (AD) DC has heterozygous mutations in either TERC or TERT, the RNA and enzymatic components of telomerase, respectively, and autosomal recessive DC in which the genes involved remain largely elusive.
|
18005359 |
2008 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.
|
10556300 |
1999 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
DKC1 has been identified as the gene responsible for X-linked DC, and genetic analyses have been performed in a worldwide study.
|
15842668 |
2005 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
DKC1 encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotein (snoRNP) particles is mutated in X-linked recessive DC.
|
17507419 |
2007 |
|
Dyskeratosis Congenita
|
0.900 |
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 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The predominant X-linked form of Dyskeratosis congenita results from mutations in DKC1, which encodes dyskerin, a protein required for ribosomal RNA modification that is also a component of the telomerase complex.
|
24987982 |
2014 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in DKC1 inactivate the dyskerin and causes dyskeratosis congenital, which is characterized by skin defects, hematopoiesis failure, and increased susceptibility to cancer.
|
30847721 |
2019 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
|
22664374 |
2013 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
Because both dyskerin and TERC are components of the telomerase complex and all patients with DC have short telomeres, the principal pathology of DC appears to relate to telomerase dysfunction, although defects in ribosomal processing via dyskerin's involvement in pseudouridylation cannot be completely ruled out.
|
16207588 |
2005 |