Sun exposure is clearly implicated in premature skin ageing and neoplastic development. These features are exacerbated in patients with Xeroderma pigmentosum (XP), a hereditary disease associated at the cellular level with DNA repair defects and a low catalase activity. The implications of oxidative stress in the defects and cancer proneness of XP skin cells (keratinocytes, fibroblasts) are mul...

Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented. This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background. We addressed the potential of diff...

BACKGROUND Whether the single nucleotide polymorphism (SNP) Lys751Gln of xeroderma pigmentosum group D(XPD) gene increases susceptibility to head and neck cancer (HNC) is controversial and undetermined. Therefore, we conducted this meta-analysis to systematically assess the possible association between them. METHODS The OVID, Medline, Embase, Pubmed, Web of Science databases were searched to ...

To determine whether expression of the XPD/ERCC2 repair gene in trichothiodystrophy (TTD) group D cells could restore mutagenesis characteristics of repair-proficient cells, we compared the UV mutagenesis of normal cells, TTD group D cells, and TTD group D cells retrovirally transduced by the wild-type XPD/ERCC2 gene (TTD + ERCC2 cells). We first verified the expression of the XPD protein, corr...

XPD functions in transcription, DNA repair and in cell cycle control. Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigmentosum (XP), Cockayne syndrome (XP/CS) and trichothiodystrophy (TTD), and only XP patients have a high predisposition to developing cancer. Hence, we developed a fly model to obtain novel insights into the defects caused by ind...

The Xeroderma pigmentosum complementation group D (XPD) is a critical protein in the nucleotide excision repair system for DNA damage. Genetic variations in XPD exert an important effect on the capacity of DNA repair. In this study, we examined Lys751Gln polymorphism at the XPD gene in 244 melanoma patients and 251 healthy individuals (as controls) from the south-eastern region of Sweden. The a...

This article presents a novel dual slant polarized antenna for millimeter-wave (mmWave) base stations. Compared with the traditional mmWave antennas, proposed offers advantages of high cross-polarization discrimination (XPD), good aperture efficiency, simple structure, and low profile. The corner-fed substrate integrated waveguide (SIW) cavity is adopted to improve port isolation XPD this slot-...

Introduction: DNA repair enzymes continuously monitor to correct damaged nucleotide residues generated by exposure environmental mutagenic and cytotoxic compounds or carcinogens. Our objective was investigate the association among XRCC1 (Arg399Gln Arg194Trp), XRCC3 (Thr241Met), XPD-ERCC2 (Lys751Gln), APE1 (Asp241Glu), PARP-ADPRT (Val762Ala) gene polymorphisms lung cancer in Turkish population. ...

BACKGROUND This study aimed to explore the role of XRCC1 (Arg399Gln) and XPD (Lys751Gln) gene polymorphisms, lifestyle and environmental factors as well as their possible interactions in propensity to develop lung cancer in a population with high incidence from North East India. MATERIALS AND METHODS A total of 272 lung cancer cases and 544 controls were collected and XRCC1 (Arg399Gln) and XP...

Studies have investigated the relationship between XPD Lys751Gln and Asp312Asn genetic variants and risk of cutaneous basal cell carcinoma (BCC). However, the results remain inconclusive. We performed a meta-analysis, using a comprehensive strategy based on the allele model and a model-free approach, to investigate the association of between XPD Lys751Gln and Asp312Asn polymorphisms with BCC ri...