Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
XPG is a structure-specific endonuclease required for nucleotide excision repair, and incision-defective XPG mutations cause the skin cancer-prone syndrome xeroderma pigmentosum.
|
26833090 |
2016 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Host cell reactivation complementation analysis implicated XP complementation group G. We identified a novel homozygous mutation (c.194T>C) in a conserved portion of the XPG(ERCC5) gene, resulting in a predicted amino acid change; p.L65P.
|
22417308 |
2012 |
Xeroderma Pigmentosum
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
|
7951246 |
1994 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The severe xeroderma pigmentosum/Cockayne syndrome (XP/CS) syndrome is caused by mutations in the XPB, XPD and XPG genes that encode the helicase subunits of TFIIH and the 3' endonuclease of nucleotide excision repair (NER).
|
16167068 |
2006 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Reliable and rapid diagnosis proved possible in all but one of the 12 pregnancies, supporting the use of these methods until the spectrum of mutations in the various XP and CS genes of the U.S. population is fully characterized and a DNA sequence-based diagnostic procedure becomes available.
|
7534923 |
1994 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The cDNAs of six of these seven clones were similar to expression tagged sequences from unknown genes in databases and the remaining one was identical to the cDNA of the xeroderma pigmentosum XPG gene.
|
9678065 |
1998 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
New insights into the combined Cockayne/xeroderma pigmentosum complex: human XPG protein can function in transcription factor stability.
|
17466619 |
2007 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These single point mutations provide formal proof that defects in XPG give rise to the group G form of xeroderma pigmentosum, and their locations suggest ways in which this may occur.
|
7951246 |
1994 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This patient is the ninth known case that falls into the extremely rare XP complementation group G. Four genetic markers within the XPG gene (including two polymorphisms) demonstrated the Mendelian distribution of this gene from the parents to the patient and to an unaffected sibling.
|
9447232 |
1997 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cockayne syndrome (CS) cells and xeroderma pigmentosum (XP) cells (XPD, XPA, XPG, and XPF) were defective in Pol II degradation, whereas XPC cells whose defect is limited to global genome NER in nontranscribing regions were proficient for Pol II degradation.
|
18927284 |
2008 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Xeroderma pigmentosum is genetically heterogeneous and is classified into seven complementation groups (XPA-XPG) that correspond to genetic alterations in one of seven genes involved in NER.
|
14705792 |
2003 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex.
|
24354460 |
2015 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
LHGDN |
Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method.
|
15082767 |
2004 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
MGD |
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene.
|
10022922 |
1999 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG).
|
23623389 |
2013 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
MGD |
Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method.
|
15082767 |
2004 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, RNA-Seq-based transcriptomic analysis indicated that expression levels of four core repair factors, xeroderma pigmentosum (XP) complementation group A (XPA), XPC, XPG, and XPF-ERCC1, are progressively up-regulated during differentiation, but not those of replication protein A (RPA) and transcription factor IIH (TFIIH).
|
30808711 |
2019 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These observations agree with earlier studies demonstrating that XPG mutations, which are predicted to lead to severely truncated proteins in both alleles, were associated with severe xeroderma pigmentosum/Cockayne syndrome neurologic symptoms.
|
12060391 |
2002 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in XPG can lead to xeroderma pigmentosum (XP), whereas truncated or unstable XPG proteins cause Cockayne syndrome (CS), normally yielding life spans of <7 years.
|
15572672 |
2004 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in ERCC5, the gene coding for XPG, cause the cancer-prone disorder xeroderma pigmentosum (XP) while truncation mutations give rise to individuals with the combined clinical features of XP and Cockayne syndrome.
|
23330005 |
2013 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis.
|
17476281 |
2007 |
Squamous cell carcinoma
|
0.340 |
CausalMutation
|
disease |
CGI |
|
|
|
Squamous cell carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
In squamous cell carcinoma, rs4150558, rs2290280, rs8067195 were significantly associated with anemia, rs3786136 was significantly related to thrombocytopenia, ERCC5 presented consecutive significant signals in response rate.
|
28924235 |
2017 |
Squamous cell carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Are XPD and XPG gene variants related to the mechanism of oral squamous cell carcinoma?
|
30672443 |
2018 |