Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Atypical Fibroxanthoma In a Patient with Xeroderma Pigmentosum

 SUMMARY X. Pis a rare autosomal recessive genodermatosis characteriseJ by photophohia, severe solar sensitivity, cutaneous pigmentary changes, xerosis and early Jevdopment of mucocutaneous and ocular cancer particularly in sun exposeJ skin. Tumors whichinclude solar keratosis, cutaneous horn, keratoachanthoma, squamous and basal cell carcinoma, malignant melanoma and angioma may developeJ in...

Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree.

CS: Cockayne syndrome ERCC5: Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene NER: Nucleotide excision repair UV: Ultraviolet WES: Whole exome sequencing XP: Xeroderma pigmentosum XP-G: Xeroderma pigmentosum complementation group G INTRODUCTION Xeroderma pigmentosum (XP) is an autosomal recessive genodermatosis caused by a germline loss of function in DN...

Xeroderma pigmentosum.

Defective postreplication repair in xeroderma pigmentosum variant fibroblasts.

Postreplication repair (PRR) was quantified in normal human fibroblasts and in xeroderma pigmentosum (XP) variant fibroblasts after treatment with UV or benzo[a]pyrene diol epoxide-I (BPDE-I). PRR may be defined as the elimination of discontinuities in the daughter-strand DNA and the replicative bypass of lesions in the DNA template. Pathways of PRR reduce the number of DNA growing points that ...

Impaired translesion synthesis in xeroderma pigmentosum variant extracts.

Xeroderma pigmentosum variant (XPV) cells are characterized by a cellular defect in the ability to synthesize intact daughter DNA strands on damaged templates. Molecular mechanisms that facilitate replication fork progression on damaged DNA in normal cells are not well defined. In this study, we used single-stranded plasmid molecules containing a single N-2-acetylaminofluorene (AAF) adduct to a...