xeroderma pigmentosum complementation group D

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xeroderma pigmentosum complementation group D

An autosomal recessive pigmentary skin disorder (OMIM:278730) characterised by photosensivity, high risk of cancer on sun-exposed skin and, in some cases, neurologic defects. Some XP-D patients have features of Cockayne syndrome, i.e., dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia and decreased nerve conduction velocities.

Molecular pathology
Caused by defects of ERCC2, which encodes a protein involved in nucleotide excision repair (NER) of DNA, by opening DNA around the site of DNA damage, and in RNA transcription.
References in periodicals archive ?
The association between the XPD genotypes and risk of CC development were studied using odds ratio (OR).
As shown in equation (9), XPD represents the polarization directivity with discrimination of the power imbalance between co-polarization and cross-polarized power components at DP receive-antenna.
To investigate the impact of XPD variations on the proposed simulation scenarios, XPD values of 0 and 15 dB are implemented while the proposed dual-polarized MIMO SCM consists XPD terms.
Figures 4(a) and 4(b) show the XPD of on-body channels with the transmitting antenna-adopted Z-polarization in the two postures.
Consistent with this critical role, dysfunctions in the NER pathway cause a UV-hypersensitive phenotype in organisms such as humans and yeast, and moreover, deletion of XPD is embryonic lethal in mice [146].
No association between hOGG1, XRCC1, and XPD polymorphisms and risk of reflux esophagitis, Barrett's esophagus, or esophageal adenocarcinoma: results from the factors influencing the Barrett's adenocarcinoma relationship case-control study.
Implications of XRCC1, XPD and APE1 gene polymorphism in North Indian population: a comparative approach in different ethnic groups worldwide.
In both the mean and the variance equations, XPD has a statistically significant coefficient, albeit with opposite signs.
El objetivo de este estudio, fue examinar mutaciones germinales en los genes TP53, PTCH y XPD como factores de riesgo para desarrollar CCB a temprana edad.
Epidemiologic studies have examined the relationship of polymorphisms in the NER genes Xeroderma pigmentosum groups A and D [XPA and XPD; Unigene accession numbers P23025, S10888, respectively (Unigene 2007)] and cancer risk.
The scientists looked for variations in two genes, dubbed XPD and XRCC1, that encode proteins governing DNA repair.