|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
|
12060391 |
2002 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have reported that the Asp1104His polymorphism in Xeroderma Pigmentosum complementation group G (XPG) was associated with the susceptibility to colorectal cancer (CRC), although the results were inconsistent.
|
25332048 |
2014 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
|
23255472 |
2013 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO.
|
7951246 |
1994 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
These results suggest that the XPG-TFIIH complex is involved in transcription elongation and that defects in this association may partly account for Cockayne syndrome in XP-G/CS patients.
|
26149386 |
2015 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Xeroderma pigmentosum complementation group G (XPG) rs2296147T>C polymorphism is suspected to associate with the clinical outcomes of cancer patients.However, the results are inconsistent.
|
27588464 |
2016 |
|
Xeroderma pigmentosum, group G
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
BEFREE |
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 |
The xeroderma pigmentosum group G (XPG or ERCC5) and group F (XPF or ERCC4) play an important role in DNA repair, and produce dual incision 3' and 5' to the damaged nucleotide fragment.
|
21424776 |
2011 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO.
|
7951246 |
1994 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize that genetic polymorphisms in DNA repair gene XPA (xeroderma pigmentosum group A) and XPG (xeroderma pigmentosum group G) (ERCC5, excision repair cross-complementation group 5), which result in inter-individual differences in DNA repair efficiency, may predict clinical response to platinum agents in advanced non-small cell lung cancer (NSCLC) patients.
|
19430706 |
2009 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO.
|
7951246 |
1994 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
|
23255472 |
2013 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affected xeroderma pigmentosum group G/Cockayne syndrome patients produce truncated XPG proteins that are unable to function in either nucleotide excision repair or the transcription-coupled repair of oxidative lesions.
|
11841555 |
2002 |
|
Xeroderma pigmentosum, group G
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Biomarker
|
disease |
CLINGEN |
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 |
Biomarker
|
disease |
CLINGEN |
Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affected xeroderma pigmentosum group G/Cockayne syndrome patients produce truncated XPG proteins that are unable to function in either nucleotide excision repair or the transcription-coupled repair of oxidative lesions.
|
11841555 |
2002 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
MGD |
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 |
BEFREE |
XPG (CC) combined with XPA (TC/CC) genotypes showed an independent role for TTP (relative risk, RR = 6.38; p = 0.0001) and survival (RR = 34; p = 0.0005).
|
18204222 |
2007 |
|
Xeroderma pigmentosum, group G
|
1.000 |
Biomarker
|
disease |
MGD |
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 |
Biomarker
|
disease |
BEFREE |
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
|
9096355 |
1997 |