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ERCC2 polymorphism is associated with breast cancer susceptibility.
These results provide new evidence to reveal the role of XPD in Cutaneous squamous cell carcinoma A431 cells.
studied SNPs in XRCC1 (show XRCC1 Proteins) and XPD have no association with the incidence of age related cataract in the analyzed group of subjects.
results indicate that the ERCC2 Lys751Gln polymorphism might be important in stimulating the development of pancreatic cancer, especially for Asians.
our results suggested that ERCC2 Asp312Asn polymorphism is associated with increased cancer risk. A significantly increased cancer risk was observed in Asian populations, but not in Caucasian populations.
hospital workers as a category are at risk for genotoxic damage caused by chronic exposure to xenobiotics. The higher levels of cytogenetic damage observed among GSTT1 (show GSTT1 Proteins) null, XPD 751 and XPC (show XPC Proteins) 939 CC homozygote subjects confirm the importance of the genetic polymorphisms analysis associated to genotoxicological studies.
XPD Lys/Lys (show LYZ Proteins) might play a facilitating role in the development of OCD.
XPG (show ERCC5 Proteins) rs2296147T>C polymorphism is associated with response to therapy in cancer.
We found that the T allele of ERCC2-rs1799793 and the A allele of ERCC3 (show ERCC3 Proteins)-rs4150441, interaction between rs1799793 and rs4150441, and haplotype containing the rs1799793T and rs11615-T alleles were all associated with increased osteosarcoma risk
meta-analysis indicates that XRCC2 (show XRCC2 Proteins) rs3218536 and ERCC2 rs13181 polymorphisms may not be associated with the risk of ovarian cancer
Results describe a recessive cataract caused by a mutation in the Xpd/Ercc2 gene and demonstrate the importance of the gene not only for lens fiber cell differentiation, but also for the sensitivity to ionizing radiation.
Compound TTD (show GTF2H5 Proteins)/XPCS heterozygosity partially rescues metabolic phenotype associated with homozygous XPD alleles. TTD (show GTF2H5 Proteins) allele dominates over XPCS allele in measures of UV-sensitivity.
premature aging associated with XPD mutation in mice
Mutations in XPD subunit of TFIIH (show GTF2H4 Proteins) result in transactivation defect of PPARs in the adipose tissue and the liver.
New pathology features support the premature aging phenotype of Xpd(TTD) mutant mice and further strengthen the link between DNA damage, DNA repair and aging.
XPCS with a G602D-encoding mutation in the Xpd helicase gene is the most skin cancer-prone NER (show NR1H2 Proteins) model to date, and it shows an unusual NER (show NR1H2 Proteins) dysfunction that is likely responsible for this susceptibility
a variety of biallelic effects on organismal phenotype which attributes to combinations of recessive Xpd alleles
results support a general model for premature aging in Xpd DNA repair deficient mice based on cellular responses to DNA damage that impair normal tissue homeostasis
ERCC2 plays role in lung cancer development in a Chinese population.
XPD expression significantly inhibited HepG2 cell proliferation, promoted HepG2 cell apoptosis, inhibited HepG2 colony formation, decreased HepG2 cells' migratory ability, and significantly lowered HepG2 cells' invasive capacity.
A novel Crb-Galla-Xpd complex and its function for proper chromosome segregation.
The multitask protein Xpd also plays an essential role in cell cycle regulation that appears to be independent of transcription or nucleotide excision repair.
The variant genotypes of XPD Lys751Gln polymorphism are associated with a higher risk of esophageal adenocarcinoma.
the regulation and expression of XPD
The zebrafish cDNA encoding xpd was isolated and examined its spatial-temporal expression during early development as well as its tissue distribution in adult zebrafish.
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
, DNA excision repair protein ERCC-2
, DNA repair protein complementing XP-D cells
, TFIIH 80 kDa subunit
, TFIIH basal transcription factor complex 80 kDa subunit
, TFIIH basal transcription factor complex helicase XPD subunit
, TFIIH basal transcription factor complex helicase subunit
, TFIIH p80
, basic transcription factor 2 80 kDa subunit
, xeroderma pigmentosum complementary group D
, xeroderma pigmentosum group D-complementing protein
, excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)
, excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
, excision repair cross-complementing rodent repair deficiency, complementation group 2
, excision repair cross-complementing 2
, DNA-repair protein complementing XP-D cells
, excision repair cross-complementing rodent repair deficiency, complementation group 6-like group 2
, lethal (2) SH2137
, xeroderma pigmentosum D