Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A significantly higher proportion of probands with familial pulmonary fibrosis (24%) and sporadic case subjects (23%) in which no coding mutation in TERT or TERC was found had telomere lengths less than the 10th percentile when compared with control subjects (P = 2.6 x 10(-8)).
|
18635888 |
2008 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The relationship between MUC5B promoter, TERT polymorphisms and telomere lengths with radiographic extent and survival in a Chinese IPF cohort.
|
31653936 |
2019 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with PF with disease-associated variants in TERT, RTEL1, or PARN had a significantly higher risk of death (adjusted hazard ratio [HR], 1.82; 95% CI, 1.07-3.08; P = .03) and CLAD (adjusted HR, 2.88; 95% CI, 1.42-5.87; P = .004) than patients without these variants.
|
30978332 |
2019 |
Pulmonary Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our results suggest that TERT has a protective role in AECII, unlike its pro-fibrotic activity, observed previously in fibroblasts, indicating that TERT's role in pulmonary fibrosis is cell type-specific.
|
31000627 |
2019 |
Pulmonary Fibrosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
We evaluated the prevalence of TERT/TERC disease-associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival.237 patients with pulmonary fibrosis (153 with familial pulmonary fibrosis, 84 with telomere syndrome features without familial pulmonary fibrosis) were tested for TERT/TERC DAV.
|
27836952 |
2016 |
Pulmonary Fibrosis
|
0.200 |
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 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial pulmonary fibrosis is associated with loss-of-function mutations in telomerase reverse transcriptase (<i>TERT</i>) and short telomeres.
|
29382801 |
2018 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients carrying mutations in TERT show a wide clinical spectrum of abnormalities, including classical DC, isolated bone marrow failure and lung fibrosis.
|
20658629 |
2010 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about similarities or differences of affected individuals.115 patients with mutations in telomerase reverse transcriptase (TERT) (n=75), telomerase RNA component (TERC) (n=7), regulator of telomere elongation helicase 1 (RTEL1) (n=14) and poly(A)-specific ribonuclease (PARN) (n=19) were identified and clinical data were analysed.Approximately one-half (46%) had a multidisciplinary diagnosis of idiopathic pulmonary fibrosis (IPF); others had unclassifiable lung fibrosis (20%), chronic hypersensitivity pneumonitis (12%), pleuroparenchymal fibroelastosis (10%), interstitial pneumonia with autoimmune features (7%), an idiopathic interstitial pneumonia (4%) and connective tissue disease-related interstitial fibrosis (3%).
|
27540018 |
2016 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
There were 9 patients (7 men) with TERT (n = 6) or TR (n = 3) mutations who received a single (n = 8) or a double (n = 1) lung transplant for pulmonary fibrosis.
|
25612863 |
2015 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, similar to affected individuals in this family, we identified a history of male and female infertility preceding the onset of pulmonary fibrosis in 11% of TERT and TR mutation carriers (five of 45).
|
25539146 |
2015 |
Pulmonary Fibrosis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
A significantly higher proportion of probands with familial pulmonary fibrosis (24%) and sporadic case subjects (23%) in which no coding mutation in TERT or TERC was found had telomere lengths less than the 10th percentile when compared with control subjects (P = 2.6 x 10(-8)).
|
18635888 |
2008 |
Pulmonary Fibrosis
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|