2020
DOI: 10.1111/1346-8138.15617
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Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity

Abstract: A case of xeroderma pigmentosum (XP) group D in a 39-year-old Japanese man is reported. The patient had suffered from moderate to severe solar sensitivity and freckle-like pigmented macules in sun-exposed areas since 6 years of age, and developed skin malignancies such as squamous cell carcinoma, actinic keratosis, Bowen's disease and basal cell carcinoma. The minimal erythema dose for ultraviolet (UV) radiation was decreased with a delayed peak reaction. The level of unscheduled DNA synthesis of fibroblasts f… Show more

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Cited by 3 publications
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“…We then explored the levels of the 17 differentially expressed genes, and screened 7 genes with stable expressions in the three samples in 0Gy group, but increase or decrease in at least two dose groups (Figure 1b). Among them, 3 differentially expressed genes POLH, RPS27L and GADD45A have been proved to be closely related to dose of radiation and have been reported as radiation biomarkers (24)(25)(26)(27)(28). Previous studies have shown that DDB2 was a radiative biomarker.…”
Section: Resultsmentioning
confidence: 99%
“…We then explored the levels of the 17 differentially expressed genes, and screened 7 genes with stable expressions in the three samples in 0Gy group, but increase or decrease in at least two dose groups (Figure 1b). Among them, 3 differentially expressed genes POLH, RPS27L and GADD45A have been proved to be closely related to dose of radiation and have been reported as radiation biomarkers (24)(25)(26)(27)(28). Previous studies have shown that DDB2 was a radiative biomarker.…”
Section: Resultsmentioning
confidence: 99%