|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results indicate that the MMS19-XPD protein complex, now designated MMXD (MMS19-MIP18-XPD), is required for proper chromosome segregation, an abnormality of which could contribute to the pathogenesis in some cases of XP-D and XP-D/CS.
|
20797633 |
2010 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
|
18637129 |
2009 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
|
18637129 |
2009 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA repair gene polymorphisms, such as those of XRCC3 and xeroderma pigmentosum, complementation group D and G (XPD, XPG), contribute to carcinogenesis.
|
19096231 |
2008 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For the most part, the authors found no association between these genes and the cancer sites investigated, except for some statistically significant associations between XPD/ERCC2 single nucleotide polymorphisms and skin, breast, and lung cancers.
|
16707649 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
|
16904611 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G>A), ERCC2/XPD (Lys751Gln) and ERCC5/XPD (His46His); the BER genes APE1/APEX (Ile64Val), OGG1 (Ser326Cys), PCNA (1876A>G) and XRCC1 (Arg194Trp, Arg280His, Arg399Gln); and the DSB-R genes ATR (Thr211Met), NBS1 (Glu185Gln), XRCC2 (Arg188His) and XRCC9 (Thr297Ile) modulate NSCLC risk.
|
16195237 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
MGD |
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
|
16904611 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
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, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glutathione S-transferase superfamily (GSTM1 and GSTT1), x-ray repair cross-complementing 1 and 3, and Xeroderma pigmentosum, group D (XRCC1-Arg399Gln, XRCC3-Thr241Met, XPD-Lys751Gln).
|
15459223 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the genetic basis for these findings by analysing the Asp312Asn and Lys751Gln polymorphisms of the XPD (ERCC2) DNA repair gene in the same subjects.
|
14735199 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A photosensitive form of trichothiodystrophy (TTD) results from mutations in the same XPD gene as the DNA-repair-deficient genetic disorder xeroderma pigmentosum group D (XP-D).
|
15009740 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.
|
12820975 |
2003 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.
|
12116233 |
2002 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha.
|
11955452 |
2002 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objective was to assess whether two polymorphisms in the nucleotide excision repair gene XPD (ERCC2) are markers of SCCHN risk.
|
12110342 |
2002 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
The xeroderma pigmentosum group D (XPD) helicase subunit of TFIIH functions in DNA repair and transcription initiation.
|
11242112 |
2001 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
|
11710928 |
2001 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results establish the essential function of the XPD protein in mammals and in cellular viability and are consistent with the notion that only subtle XPD mutations are found in XP, XP/Cockayne syndrome, and trichothiodystrophy patients.
|
9426063 |
1998 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH (refs 1,2).
|
9771713 |
1998 |