|
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 |
The social amoeba <i>Dictyostelium discoideum</i> contains a gene coding for a dyskerin homologous protein.In this article <i>D. discoideum</i> mutant strains that have mutations corresponding to mutations found in dyskeratosis congenita patients are described.
|
31717312 |
2019 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To understand the role of dyskerin in hTR accumulation, we analyzed X-DC substitutions K39E and K43E in the poorly characterized dyskerin N-terminus, and A353V within the canonical RNA binding domain (the PUA).
|
30931479 |
2019 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We used human embryonic stem cells (hESCs) with a common dyskerin mutation (DKC1_A353V), which have defective telomere maintenance and reduced definitive hematopoietic potential, to understand the effects of reducing EXOSC3 activity, or silencing PAPD5-mediated oligoadenylation, on hematopoietic progenitor specification and function in DC.
|
30728146 |
2019 |
|
Dyskeratosis Congenita
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
GSE24.2 peptide and a short derivative GSE4 peptide corresponding to an internal domain of Dyskerin have proved to induce telomerase activity, decrease oxidative stress, and protect from DNA damage in dyskeratosis congenita (DC) cells.
|
30670828 |
2019 |
|
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 |
The novel variant detected in the DKC1 gene adds further to the existing scientific literature on the genotype-phenotype correlation of DC, and has important implications for the clinical and molecular characterization of the disease.
|
29801475 |
2018 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.
|
29178645 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.
|
25992652 |
2015 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.
|
25992652 |
2015 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dyskerin harbors many mutations associated with dyskeratosis congenita.
|
25553844 |
2015 |
|
Dyskeratosis Congenita
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
|
24914498 |
2014 |
|
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 |
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 |
Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent.
|
25237198 |
2014 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.
|
23660516 |
2013 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
|
22058290 |
2012 |
|
Dyskeratosis Congenita
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
|
22855157 |
2012 |
|
Dyskeratosis Congenita
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
|
22058290 |
2012 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
CTD_human |
Our data therefore support a model that deficiency in dkc1 and nola1 in the H/ACA RNP complex likely contributes to the hematopoietic phenotype through p53 activation associated with rRNA processing defects rather than telomerase deficiency during the initial stage of DC pathogenesis.
|
22299032 |
2012 |
|
Dyskeratosis Congenita
|
0.900 |
Biomarker
|
disease |
BEFREE |
All eight known disease-causing genes in DC (DKC1, TERC, TERT, NOP10, NHP2, TINF2, C16orf57, and TCAB1) were screened for mutations.
|
22814958 |
2012 |