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The allele combination of CGC from hOGG1, ITGA2 (show ITGA2 Proteins) and XPD polymorphisms was significantly associated with increased odds of nasopharyngeal carcinoma.
CHD1 facilitates substrate handover from XPC (show XPC Proteins) to the downstream TFIIH (show GTF2H1 Proteins) (transcription factor IIH).
Allelic variants in ERCC1 and ERCC2 are not associated with an increased risk of developing pre-senile cataract. The presence of Gln/Gln in XRCC1 in the pre-senile cataract group with regard to the group without cataract is associated with a major risk of developing pre-senile cataract.
our study provided preliminary evidence that the ERCC2 rs50872 T allele was associated with a favorable survival while the XRCC1 (show XRCC1 Proteins) rs25487 A allele was associated with a worse survival outcome for advanced NSCLC patients.
Genetic polymorphism in ERCC2 gene is associated with response to chemotherapy in osteosarcoma.
XPD 312 single nucleotide polymorphism is associated with Non-Small-Cell Lung Cancer.
At 24 months of follow-up, patients with xeroderma pigmentosum group D protein (XPD) c.934AA genotype presented lower progression-free survival and overall survival in Kaplan-Meier estimates.
the association of six non-synonymous coding variants from XRCC1 (show XRCC1 Proteins), XRCC3 (show XRCC3 Proteins) and XPD genes with hepatocellular carcinoma risk, was assessed.
characterized by a broad spectrum of base changes. In addition, we note an association between the activity of this signature and smoking that is independent of ERCC2 mutation status, providing genomic evidence of tobacco-related mutagenesis in urothelial cancer
Hypermethylation within the promoter region of the ERCC2 gene is associated with gastric 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