|
Facial Neoplasms
|
0.010 |
GeneticVariation
|
group |
LHGDN |
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.
|
17660462 |
2007 |
|
Gastritis, Atrophic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Haplotype analysis suggested that DDB2 rs2029298-rs326222-rs3781619-rs830083 GTAG haplotype was significantly associated with disease risk in each step of CON→AG→GC development (AG vs. CON: OR=2.88, P= 7.51 × 10-7; GC vs. AG: OR=2.90, P=5.68 × 10-15; GC vs. CON: OR=8.42, P=2.22 × 10-15); DDB2 GTAC haplotype was associated with reduced risk of GC compared with CON (OR=0.63, P= 8.31 × 10-12).
|
26760766 |
2016 |
|
Malignant neoplasm of stomach
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
XPA rs2808668 and drinking, DDB2 rs326222, rs3781619, rs830083 and smoking demonstrated significant interactions in AG; XPC rs2607775 had significant interaction with smoking in GC.
|
26760766 |
2016 |
|
Vascular Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
To investigate the implications for human vascular disease, we explored associations between single-nucleotide polymorphisms of selected nucleotide excision repair genes and arterial stiffness within the AortaGen Consortium and found a significant association of a single-nucleotide polymorphism (rs2029298) in the putative promoter region of DDB2 gene with carotid-femoral pulse wave velocity.
|
22705887 |
2012 |
|
Malnutrition
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DDB2 gene can cause a repair-deficiency syndrome xeroderma pigmentosum group E. Because tobacco carcinogens can cause DNA damage that is repaired by NER and suboptimal NER capacity is reported to be associated with lung cancer risk, we hypothesized that common variants in the DDB2 gene are associated with lung cancer risk.
|
16522664 |
2006 |
|
Pancreatic carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In our study, we conducted a case-control study to investigate the association of ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC and DDB2 gene polymorphisms in the risk of pancreatic cancer.
|
26617894 |
2015 |
|
Malignant neoplasm of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate, for the first time, that the DDB2 rs830083 polymorphism may contribute to the etiology of lung cancer.
|
16522664 |
2006 |
|
Malignant neoplasm of pancreas
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In our study, we conducted a case-control study to investigate the association of ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC and DDB2 gene polymorphisms in the risk of pancreatic cancer.
|
26617894 |
2015 |
|
Carcinoma of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate, for the first time, that the DDB2 rs830083 polymorphism may contribute to the etiology of lung cancer.
|
16522664 |
2006 |
|
Stomach Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
XPA rs2808668 and drinking, DDB2 rs326222, rs3781619, rs830083 and smoking demonstrated significant interactions in AG; XPC rs2607775 had significant interaction with smoking in GC.
|
26760766 |
2016 |
|
Primary malignant neoplasm of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate, for the first time, that the DDB2 rs830083 polymorphism may contribute to the etiology of lung cancer.
|
16522664 |
2006 |
|
Skin Carcinogenesis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that (i) the DDB2 gene is somewhat related to skin carcinogenesis, photoaging skin, and the removal of (6-4) photoproducts; (ii) although it is believed that cyclobutane pyrimidine dimers are the principal mutagenic lesion and (6-4) photoproducts are less likely to contribute to ultraviolet-induced mutations in mammals, Ops1 is one of the ultraviolet-induced mutagenic models induced by (6-4) photoproducts.
|
10469312 |
1999 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in the human DDB2 gene give rise to xeroderma pigmentosum group E, a disease characterized by increased skin tumorigenesis in response to UV-irradiation.
|
14769931 |
2004 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.
|
10469312 |
1999 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.
|
21388382 |
2011 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Besides confirming that the true XP-E phenotype is DDB(-), resulting from defects in a single gene, DDB2, our results identify the functional domains of the corresponding p48 protein.
|
12812979 |
2003 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Moreover, DDB2 is mutated in the repair-deficiency disease xeroderma pigmentosum (Group E).
|
15558025 |
2005 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
|
26884178 |
2016 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
MGD |
Moreover, DDB2 is mutated in the repair-deficiency disease xeroderma pigmentosum (Group E).
|
15558025 |
2005 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in the human DDB2 gene give rise to xeroderma pigmentosum group E, a disease characterized by increased skin tumorigenesis in response to UV-irradiation.
|
14769931 |
2004 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
BEFREE |
The genes defective in all groups have been identified unambiguously with the exception of group E. The cells of some XP-E patients are deficient in a protein complex (consisting of two subunits: p127/DDBI and p48/DDB2) which binds to UV-damaged DNA (UV-DDB) and is specifically involved in the removal of photoproducts from the non-transcribed regions of the genome.
|
12812979 |
2003 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutant DDB2 proteins derived from xeroderma pigmentosum group E patients are not able to mediate ubiquitylation around damaged sites in chromatin.
|
20368362 |
2010 |