|
Xeroderma pigmentosum, group G
|
0.010 |
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 B
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.
|
8663148 |
1996 |
|
Xeroderma pigmentosum, group B
|
0.020 |
Biomarker
|
disease |
BEFREE |
Xeroderma Pigmentosum group B (XPB) and group D (XPD) are important helicases in NER and are also critical subunits of TFIIH complex.
|
29959982 |
2018 |
|
Xeroderma pigmentosum, group A
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
When analyzing the combined effects of variant alleles, 54 patients and controls were identified that were homozygous for two or three of the potential risk alleles [i.e. the variants in nucleotide excision repair, XPA (-4A) and XPD 751Gln, and in homologous recombination, XRCC3-241Met].
|
15333465 |
2004 |
|
Xeroderma pigmentosum, group A
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
We identified a sufficient number of epidemiologic studies on lung cancer to conduct a meta-analysis for genetic polymorphisms in nucleotide excision repair pathway genes, focusing on xeroderma pigmentosum group A (XPA), excision repair cross complementing group 1 (ERCC1), ERCC2/XPD, ERCC4/XPF and ERCC5/XPG.
|
17299578 |
2007 |
|
Xeroderma pigmentosum, group A
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
To investigate the roles of insulin-like growth factor II (IGF2), myeloperoxidase (MPO), E-cadherin (CDH1), urokinase and xeroderma pigmentosum group A and D (XPA, XPD) polymorphisms upon leiomyoma susceptibility.
|
20651370 |
2010 |
|
Xeroderma pigmentosum, group A
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The transfectant overexpressing mutant XPA with a defect in the interaction with either ERCC1, replication protein A (RPA), or general transcription factor TFIIH, showed more or less decreased repair of CPD in each strand in parallel, while in the transfectant overexpressing R207G (Arg207to Gly) mutant XPA derived from XP129, a UV-resistant XP12ROSV revertant, the rate of CPD repair was almost normal in each strand.
|
9753735 |
1998 |
|
Xeroderma pigmentosum, group A
|
0.050 |
Biomarker
|
disease |
BEFREE |
Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersensitive to cisplatin irrespective of their GG-NER status, and that gene complementation with XPA and XPD increases resistance to cisplatin.
|
12208738 |
2002 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
|
27004399 |
2016 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
The human DNA excision repair gene, ERCC2 (XPD), substantially corrected the plasmid UV hypersensitivity and UV hypermutability of xeroderma pigmentosum complementation group D cells; however, the dose response relationship varied for different end points.
|
8033104 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
Various combinations of the keywords and MeSH terms were used to screen for potentially relevant studies, specifically "genetic polymorphisms" or "SNPs" or "variation" or "single nucleotide polymorphism" or "polymorphism" or "mutation" or "variant"; "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "XPD" or "Xeroderma Pigmentosum Complementation Group D Protein" or "ERCC2" or "XRCC1" or "XRCC1 DNA repair protein"; and "Cataract" or " Membranous Cataract" or " Pseudoaphakia."
|
25873778 |
2015 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).
|
24252196 |
2013 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
|
27504877 |
2016 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
While HD1A closely resembles the XPD phenotype in terms of u.v. sensitivity and excision repair it differs from XPD because of its ability to reactivate u.v.-irradiated adenovirus 2 to an extent similar to that of its HeLa parent.
|
3757174 |
1986 |
|
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Xeroderma pigmentosum group D (XPD) rs13181 may reduce DNA repair capacity (DRC) through modifying XPD protein product.
|
24845027 |
2014 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
|
9238033 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
|
22826098 |
2012 |