Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have therefore screened the TERT gene for mutation by denaturing HPLC in 80 patients with inherited and acquired bone marrow failure (24 with dyskeratosis congenita, 36 with constitutional aplastic anemia, 13 with idiopathic aplastic anemia and 7 with other forms of bone marrow failure).
|
15885610 |
2005 |
Dyskeratosis Congenita
|
0.600 |
Biomarker
|
disease |
BEFREE |
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres.
|
17468339 |
2007 |
Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dyskeratosis congenita (DC) is a rare inherited form of bone marrow failure (BMF) caused by mutations in telomere maintaining genes including TERC and TERT.
|
18931339 |
2009 |
Dyskeratosis Congenita
|
0.600 |
Biomarker
|
disease |
BEFREE |
In both mice and humans, hemizygosity for the telomerase RNA or TERT leads to an inability to maintain telomeres; in humans, this insufficiency can lead to diseases such as aplastic anaemia or dyskeratosis congenita.
|
16132814 |
2005 |
Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our study identified three clinical pathologic TERT mutations and implied that telomere erosion might be accumulated through successive generations, contributing to the severity of DC in the younger generation.
|
31119896 |
2019 |
Dyskeratosis Congenita
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC.
|
19558498 |
2010 |
Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles.
|
26329388 |
2015 |
Dyskeratosis Congenita
|
0.600 |
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
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
As our patients manifested neither intracranial calcification nor significant neurocognitive impairment, we conclude that the c.2603A>G TERT mutation may define a subtype of DC manifesting first as exudative retinopathy without other signs of DC.
|
25067791 |
2014 |
Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a novel TERT mutation at position T1129P leading to DKC with progressive bone marrow (BM) failure in homozygous members of a consanguineous family.
|
26546739 |
2015 |
Dyskeratosis Congenita
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.
|
18042801 |
2008 |
Dyskeratosis Congenita
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Telomerase RNA component (TERC), the RNA component and TERT the enzymatic component of telomerase, are mutated in autosomal dominant DC, suggesting that DC is primarily a disease of defective telomere maintenance.
|
17507419 |
2007 |
Dyskeratosis Congenita
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, we found that expression of TER and TERT together resulted in extension of lifespan and higher levels of telomerase and longer telomeres than expression of TERT alone in both AD DC and normal cells.
|
17381549 |
2007 |
Dyskeratosis Congenita
|
0.600 |
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 |
Dyskeratosis Congenita
|
0.600 |
Biomarker
|
disease |
BEFREE |
This is the first study of its kind in DC lymphocytes and the first to demonstrate that transduction with TERC alone can improve cell survival and telomere length without the need for exogenous TERT.
|
19036115 |
2009 |
Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
As with DC, mutations in genes encoding factors required for telomere maintenance, such as telomerase reverse transcriptase (TERT), have been found in patients with HHS.
|
23538340 |
2013 |
Dyskeratosis Congenita
|
0.600 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
|
16247010 |
2005 |
Dyskeratosis Congenita
|
0.600 |
Biomarker
|
disease |
CTD_human |
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.
|
18042801 |
2008 |
Dyskeratosis Congenita
|
0.600 |
Biomarker
|
disease |
CTD_human |
Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome.
|
17785587 |
2007 |
Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
|
16990594 |
2007 |
Dyskeratosis Congenita
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
|
18460650 |
2008 |