|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
BEFREE |
Microinjection of ERCC5 cDNA specifically restored the defect of xeroderma pigmentosum group G cells (XP-G) as measured by unscheduled DNA synthesis, and XP-G cells stably transformed with ERCC5 cDNA showed nearly normal UV resistance.
|
7510366 |
1994 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
BEFREE |
The known XPG protein function as the 3' nuclease in NER, however, cannot explain the development of CS in certain XP-G patients.
|
10022922 |
1999 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In contrast, two sibling XPG patients without CS are able to make full-length XPG, but with a missense mutation that inactivates its function in NER.
|
9096355 |
1997 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The control mice, in which one-half of Xpg genomic DNA fragment was replaced with a normal Xpg cDNA fragment, had a normal growth rate, a normal life span, normal sensitivity to UV light, and normal DNA repair ability, indicating that the Xpg gene partially replaced with the normal cDNA fragment retained normal functions.
|
15082767 |
2004 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that genetic variation in XPG/ERCC5 may not affect the risk of SCCHN, although rs4150351 C variant genotypes were associated with an increased expression of XPG/ERCC5 mRNA and nonsignificantly decreased risk of SCCHN.
|
22108238 |
2012 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
BEFREE |
DNA was extracted from blood samples and 15 common nonsynonymous SNPs in seven-nucleotide excision repair genes [XPC, RAD23B (hHR23B), CSB (ERCC6), XPD (ERCC2), CCNH, XPF (ERCC4), and XPG (ERCC5)] were genotyped.
|
16492920 |
2006 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.
|
11228268 |
2001 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
BEFREE |
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
|
11841555 |
2002 |
|
Xeroderma pigmentosum, group G
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
We found that in vivo knock down of Xeroderma pigmentosum, complementation group G (Xpg) causes elevation of HSC numbers after IR treatment, while numbers of haematopoietic progenitors are elevated to a lesser extent.
|
27137888 |
2016 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.
|
11228268 |
2001 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
"Effect of the norepinephrine receptor stimulating agent ""clonidine"" on the turnover of 5-hydroxytryptamine in some areas of the rat brain."
|
1206391 |
1975 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The control mice, in which one-half of Xpg genomic DNA fragment was replaced with a normal Xpg cDNA fragment, had a normal growth rate, a normal life span, normal sensitivity to UV light, and normal DNA repair ability, indicating that the Xpg gene partially replaced with the normal cDNA fragment retained normal functions.
|
15082767 |
2004 |
|
Cerebrooculofacioskeletal Syndrome 3
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cerebrooculofacioskeletal Syndrome 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
|
24700531 |
2014 |
|
Cerebrooculofacioskeletal Syndrome 3
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Cerebrooculofacioskeletal Syndrome 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
|
9096355 |
1997 |
|
melanoma
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Thus, ERCC5 codon 1104 and ERCC2 codon 751 polymorphisms are independent prognostic factors in patients with cutaneous melanoma.
|
21390047 |
2011 |
|
melanoma
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis suggested that the XPG Asp1104His polymorphism was a risk factor for melanoma susceptibility.
|
25231183 |
2015 |
|
melanoma
|
0.430 |
Biomarker
|
disease |
HPO |
|
|
|
|
melanoma
|
0.430 |
Biomarker
|
disease |
BEFREE |
Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis.
|
17164380 |
2006 |
|
melanoma
|
0.430 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
NER involves more than 20 proteins whose inactivation leads to xeroderma pigmentosum (XP) or cockayne syndrome (CS), among which XPD, a helicase allowing DNA strand excision by the endonuclease XPG.
|
16646069 |
2006 |
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
In cells of XP-G patients with a combined XP and CS phenotype, XPG fails to associate with TFIIH and as a consequence the CAK subunit dissociates from core TFIIH.
|
18077223 |
2008 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition to xeroderma pigmentosum (XP), mutations in the human XPG gene cause early onset of Cockayne syndrome (CS) in some patients (XPG/CS).
|
15082767 |
2004 |