|
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 |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The xeroderma pigmentosum group E (XP-E) causing K244E mutant of DDB2 found in patient XP82TO, supported UV-DDB dimerization but was found to slide on DNA and failed to stably engage lesions.
|
24760829 |
2014 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
CTD_human |
α-N-methylation of damaged DNA-binding protein 2 (DDB2) and its function in nucleotide excision repair.
|
24753253 |
2014 |
|
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 |
Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.
|
21107348 |
2011 |
|
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 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
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 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DDB2 gene account for the underlying defect in XP-E.
|
16473935 |
2006 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
BEFREE |
The mouse model of XP-E demonstrated that DDB2 was well conserved between mouse and human and was critical in controlling proper cell-survival through regulating the tumor suppressor p53-mediated responses after ultraviolet (UV)-irradiation: i.e. defective DDB2 causes the resistance to cell-killing by UV-irradiation due to decreased p53-mediated apoptosis.
|
16325378 |
2006 |
|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human DDB2 gene generate the E subgroup of xeroderma pigmentosum (XP-E).
|
14560002 |
2003 |
|
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 |
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, COMPLEMENTATION GROUP E
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The DDB2 gene, which is mutated in xeroderma pigmentosum group E, enhances global genomic repair of cyclobutane pyrimidine dimers and suppresses UV-induced mutagenesis.
|
11971958 |
2002 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These results, coupled with our findings that most, if not all DDB(+) cells classified as XP-E were misclassified, suggests a direct correlation between DDB2 levels and the XP-E phenotype.
|
11704828 |
2001 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, overexpressed p48 peptides containing the mutations found in three Ddb(-) XPE strains are inactive, and wild type p48 restores DDB activity to extracts from a fourth XPE Ddb(-) strain, GM01389, in which compound heterozygous mutations in DDB2 (p48) lead to a L350P change from one allele and a Asn-349 deletion from the other.
|
10777490 |
2000 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
|
8798680 |
1996 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
|
8798680 |
1996 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.
|
8798680 |
1996 |