Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Dynamics of DDB2-DDB1 complex under different naturally-occurring mutants in Xeroderma Pigmentosum disease.
|
30251654 |
2018 |
Xeroderma Pigmentosum
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Real-time RT-PCR detected a down-regulated xeroderma pigmentosum C (XPC) and an up-regulated UV-DDB2 gene expression in mildly-stressed embryos, whereas 8-oxoguanine DNA glycosylase (OGG1) gene expression increased with PQ exposure levels.
|
27705808 |
2017 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
BEFREE |
The xeroderma pigmentosum (XP-E) DNA damage binding protein (DDB2) is involved in early recognition of global genome DNA damage during DNA nucleotide excision repair (NER).
|
21388382 |
2011 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly, DNA synthesis recovered normally in GG-NER-deficient XP complementation group E (XP-E) cells that carry mutations in the p53 regulated DNA repair gene DDB2 and are specifically defective in the repair of cyclobutane pyrimidine dimers (CPD) but not pyrimidine (6-4) pyrimidone photoproducts.
|
17630510 |
2007 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
LHGDN |
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.
|
17660462 |
2007 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
MGD |
Tumor-prone phenotype of the DDB2-deficient mice.
|
15558025 |
2005 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
MGD |
DDB2 gene disruption leads to skin tumors and resistance to apoptosis after exposure to ultraviolet light but not a chemical carcinogen.
|
14769931 |
2004 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human DDB2 gene generate the E subgroup of xeroderma pigmentosum (XP-E).
|
14560002 |
2003 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
BEFREE |
p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice.
|
11971958 |
2002 |
Xeroderma Pigmentosum
|
0.300 |
Biomarker
|
disease |
BEFREE |
The orthologous human gene (FLJ12973), is expressed ubiquitously and encodes a WD-repeat protein with structural similarity to DDB2, the small subunit of the xeroderma pigmentosum XP-E complex.
|
12499253 |
2002 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DDB2 gene inactivate UV-DDB in individuals from complementation group E of xeroderma pigmentosum (XP-E), an autosomal recessive disease characterized by sun sensitivity, severe risk for skin cancer and defective nucleotide excision repair.
|
12509284 |
2002 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
As only the Ddb- strains investigated remain classified in the xeroderma pigmentosum E complementation group, it is feasible that only Ddb- cells are xeroderma pigmentosum E and that mutations in the DDB2 gene are solely responsible for the xeroderma pigmentosum E group.
|
10771487 |
2000 |
Xeroderma Pigmentosum
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
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 |