|
Trichothiodystrophy Syndromes
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
ERCC2 mutations in two siblings with a severe Trichothiodystrophy phenotype.
|
31803976 |
2020 |
|
Neoplasm Metastasis
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
We have demonstrated that the overexpression of TFIIH correlates positively with node metastasis, while XPF correlates negatively with node metastasis; therefore, the expression of XPF and TFIIH had a potential value for predicting the progression of OTSCC patients.
|
31828418 |
2020 |
|
Squamous cell carcinoma of tongue
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We have demonstrated that the overexpression of TFIIH correlates positively with node metastasis, while XPF correlates negatively with node metastasis; therefore, the expression of XPF and TFIIH had a potential value for predicting the progression of OTSCC patients.
|
31828418 |
2020 |
|
ABLEPHARON-MACROSTOMIA SYNDROME
|
0.010 |
Biomarker
|
disease |
BEFREE |
Second, the targets of DZ were predicted using the SwissTargetPrediction and STITCH databases; the targets of AMS were also collected from the Drugbank and TTD databases.
|
31835126 |
2020 |
|
Trichothiodystrophy Syndromes
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our cases confirm the severe phenotype associated with the p.Arg722Trp mutation and expand the known genetic mutations associated with trichothiodystrophy by demonstrating a novel pathogenic mutation in ERCC2.
|
31282071 |
2019 |
|
melanoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The dependence of TFIIH-CAK on sequence-specific MITF and c-MYC constitutes a previously unrecognized mechanism feeding into super-enhancer-driven or other oncogenic transcriptional circuitries, which supports the concept of a transcription-directed therapeutic intervention in melanoma.
|
30651597 |
2019 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201-1.976, <i>P</i>=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184-4.225, <i>P</i><0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235-3.222, <i>P</i><0.001) were significantly higher in patients who smoked ≥16 packs/year.
|
30429230 |
2019 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Erratum: A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation.
|
29284765 |
2019 |
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.
|
31455402 |
2019 |
|
Carcinoma of lung
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To analyze the relationship of GSTT1, GSTM1, XRCC1 (rs25487), ERCC1 (rs11615, rs3212986), ERCC2 (rs13181), XRCC3 (rs861539), OGG1 (rs1052133), and Alpha-1-Antitrypsin mutations (AAT) with the risk of lung cancer in never-smokers, and ascertain if there is an effect modification between these polymorphisms and residential radon exposure.
|
31446980 |
2019 |
|
Carcinoma of lung
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To sum up, ERCC2-rs13181 polymorphism could be a critical factor in stimulating LC evolvement.
|
31337555 |
2019 |
|
Carcinoma of lung
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We discovered that polymorphisms in the XPD gene in men [log-additive model: odds ratio (OR) = 1.64, 95% confidence interval (CI): 1.17-2.31], the ATM gene in women and nonsmokers (codominant model: OR = 0.11, 95% CI: 0.02-0.49 and OR = 0.25, 95% CI: 0.08-0.72, respectively), the APEX1 gene for smokers (recessive model: OR = 2.55, 95% CI: 1.34-4.85), and the NBS1 gene for those who work in the coal industry (overdominant model: OR = 0.40, 95% CI: 0.21-0.75) are associated with an increased risk of lung cancer.
|
31584889 |
2019 |
|
Carcinoma of lung
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In classification and regression tree analysis (CART), we observed a 6-fold risk for SCLC patients carrying XPA 5'UTR (M), XPD K751Q (W) (OR: 6.20; 95%CI: 2.40-16.01, p = 0.0001).Polymorphic NER genes might jointly modulate lung cancer risk through gene-gene and gene-smoking interaction.
|
31195348 |
2019 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The alleles XRCC1-Gln (OR 5.11; 95% CI 5.68-11.64, p < .0001), hMSH2-Asp (OR 4.66; 95% CI 3.90-5.56, p < .0001), XPD-Gln (OR 2.65; 95% CI 2.24-3.14, p < .0001) and BRCA1-L (OR 1.45; 95% CI 1.24-1.71, p < .0001) genes were strongly correlated with this malignancy.
|
29209986 |
2019 |
|
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mapping disease mutations associated with xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome onto defined communities reveals clustering into three mechanistic classes that affect TFIIH helicase functions, protein interactions and interface dynamics.
|
31110295 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Conclusion:</b> Current findings suggest that XPD Lys751Gln variant could be considered as a prognostic factor in AML.
|
31647372 |
2019 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The NIR-regulated UCNP@TTD-cRGD NPs that were developed could selectively light up the targeted cancer cells and significantly inhibit tumor growth during the NIR-regulated PDT treatment as compared with the cells under white light excitation.
|
30662565 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In a separate genomic analysis, we detected significantly more likely deleterious somatic ERCC2 missense mutations in primary MIBC tumors in both the discovery (10.9% [36/330] vs 1.8% [1/55], p=0.04) and the validation (15.7% [12/70] vs 0% [0/24], p=0.03) cohort.
|
30290956 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In conclusion, our results indicate that the <i>ERCC1</i> rs3212986 and the <i>ERCC2/XPD</i> rs1799793 could be used as surrogate markers for a better stratification of EC patients with advanced resectable tumor.
|
30847299 |
2019 |
|
Malignant neoplasm of lung
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We discovered that polymorphisms in the XPD gene in men [log-additive model: odds ratio (OR) = 1.64, 95% confidence interval (CI): 1.17-2.31], the ATM gene in women and nonsmokers (codominant model: OR = 0.11, 95% CI: 0.02-0.49 and OR = 0.25, 95% CI: 0.08-0.72, respectively), the APEX1 gene for smokers (recessive model: OR = 2.55, 95% CI: 1.34-4.85), and the NBS1 gene for those who work in the coal industry (overdominant model: OR = 0.40, 95% CI: 0.21-0.75) are associated with an increased risk of lung cancer.
|
31584889 |
2019 |
|
Malignant neoplasm of lung
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In classification and regression tree analysis (CART), we observed a 6-fold risk for SCLC patients carrying XPA 5'UTR (M), XPD K751Q (W) (OR: 6.20; 95%CI: 2.40-16.01, p = 0.0001).Polymorphic NER genes might jointly modulate lung cancer risk through gene-gene and gene-smoking interaction.
|
31195348 |
2019 |
|
Malignant neoplasm of lung
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To analyze the relationship of GSTT1, GSTM1, XRCC1 (rs25487), ERCC1 (rs11615, rs3212986), ERCC2 (rs13181), XRCC3 (rs861539), OGG1 (rs1052133), and Alpha-1-Antitrypsin mutations (AAT) with the risk of lung cancer in never-smokers, and ascertain if there is an effect modification between these polymorphisms and residential radon exposure.
|
31446980 |
2019 |
|
Malignant neoplasm of lung
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To sum up, ERCC2-rs13181 polymorphism could be a critical factor in stimulating LC evolvement.
|
31337555 |
2019 |
|
Breast Carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Allele XRCC1-Gln (OR 6.37; 95% CI 4.86-8.35, <i>p</i> < .0001), <i>hMSH2</i>-Asp (OR 4.41; 95% CI 3.43-5.67, <i>p</i> < .0001), XPD -Gln (OR 2.56; 95% CI 2.02-3.25, <i>p</i> < .0001) and <i>RAD51</i>-T genes (OR 1.44; 95% CI 1.15-1.80, <i>p</i> = 0.002) strongly correlated with breast carcinoma.
|
30728902 |
2019 |
|
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The alleles XRCC1-Gln (OR 5.11; 95% CI 5.68-11.64, p < .0001), hMSH2-Asp (OR 4.66; 95% CI 3.90-5.56, p < .0001), XPD-Gln (OR 2.65; 95% CI 2.24-3.14, p < .0001) and BRCA1-L (OR 1.45; 95% CI 1.24-1.71, p < .0001) genes were strongly correlated with this malignancy.
|
29209986 |
2019 |