|
Aplastic Anemia
|
0.790 |
Biomarker
|
disease |
BEFREE |
The clinical relevance of varying telomere lengths (TL) and/or mutations in genes of the telomerase complex (TERC, TERT) is evolving in aplastic anemia.
|
23636667 |
2013 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia.
|
20658629 |
2010 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
|
19760749 |
2009 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
TERC and TERT mutations were also found in patients with aplastic anemia.
|
18989882 |
2009 |
|
Aplastic Anemia
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.
|
18042801 |
2008 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis.
|
17392301 |
2007 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Recently, heterozygous mutations in TERT have been found in some patients with autosomal dominant DC and aplastic anemia.
|
17663679 |
2007 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that telomerase function is defective and that this is associated with short telomeres.
|
17640862 |
2007 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
LHGDN |
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
|
16990594 |
2007 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
|
16990594 |
2007 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
Novel heterozygous, non-synonymous mutations in TERT (T726M and G682D) were found in two patients with AA, neither of whom had clinical characteristics suggesting constitutional AA.
|
16627250 |
2006 |
|
Aplastic Anemia
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an additional 81 patients and 246 controls were examined for genetic variations in TERT.
|
15814878 |
2005 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The results of coexpression of wild-type TERT and TERT with aplastic anemia-associated mutations in a telomerase-deficient cell line suggested that haploinsufficiency was the mechanism of telomere shortening due to TERT mutations.
|
15814878 |
2005 |
|
Aplastic Anemia
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
Aplastic Anemia
|
0.790 |
Biomarker
|
disease |
CTD_human |
We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an additional 81 patients and 246 controls were examined for genetic variations in TERT.
|
15814878 |
2005 |
|
Aplastic Anemia
|
0.790 |
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 |
|
Aplastic Anemia
|
0.790 |
Biomarker
|
disease |
HPO |
|
|
|
|
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
TERT positivity as a test for melanoma versus nevus had an accuracy of 87.3% [95% confidence interval (CI), 81.1-92.1], a sensitivity of 77.9% (95% CI, 68.9-85.4), a specificity of 98.6% (95% CI, 95.8-100), a positive predictive value of 98.5% (95% CI, 95.6-100), and a negative predictive value of 78.9% (95% CI, 72.6-85.4).
|
30211730 |
2019 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated the impact of the subtypes of TERT mutations on disease-free and melanoma-specific survival in 287 patients with stage I/II nonacral melanoma.
|
30070694 |
2019 |
|
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Leukemia cell lines K-562, its vincristine-resistant derivative K-562-Lucena1 and daunorubicin-resistant derivative FEPS; gastric adenocarcinoma lines AGP01, ACP02 and ACP03; melanoma SK-Mel-103 cells; and MN01 and MRC5, two non-neoplastic cell lines were analyzed by real-time polymerase chain reaction in order to evaluate hTERT gene expression.
|
31519574 |
2019 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.
|
31203567 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings suggest that the functional interplay between FLT3ITD and hTERT contributes to the AML pathogenesis and interferes with the efficacy of FLT3ITD-targeted therapy.
|
29080039 |
2018 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Secondary genetic alterations overcome tumor suppressive mechanisms and allow the progression to intermediate lesions characterized by TERT-p mutation or to invasive melanomas displaying disruption of tumor suppressor genes.
|
30069451 |
2018 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
TERT mutations were found in 68% of primary melanomas and 64% of metastases, and the mutation status was discordant between primary tumour and metastasis in 24% of the cases.
|
29123258 |
2018 |
|
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Exploiting TERT dependency as a therapeutic strategy for NRAS-mutant melanoma.
|
29695835 |
2018 |