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 ?
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.
Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators.
The results of this study, suggest that the XPD Lys751Gln polymorphism may have a significant role in the development of early-onset BCC in the Puerto Rican population.
The test for interaction suggested that the two polymorphisms in XPD were the stronger modifiers of the association between arsenic and NMSC; the Asp312Asn polymorphism-arsenic interaction was of borderline significance for SCC (p = 0.
To determine the effect of antenna XPD on diversity gain it is necessary to determine the diversity gain associated with each value of input and output correlation coefficient.
XPD represents the ratio of the co- polarized to the cross-polarized average power at a Rx as follows
Table 2 summarizes the cross polarization discrimination, XPD of all elements of the studied MAs at 3500 MHz.
The data indicate that XRCC1 399Gln and XRCC3 241Met are associated with defects in BER, and XPD 312Asn and XPD 751 Gln with NER.
However, for the up-link, the coupling can be described by XPD only.
Thirteen polymorphisms in drug metabolism (GSTP, MTHFR and TS) and DNA repair (ERCC1, RAD51, XPD, XRCC1 and XRCC3) genes were also investigated to determine if specific patterns were predictive.
The power imbalance part introduces the effects of XPD (please refer to [14] for the definition of XPD) to the channel by using the power imbalance matrix
I selected what Buffalo Bore lists as their Heavy 140-grain load, using the all-copper Barnes XPD hollowpoint bullet.