The Sonic hedgehog (SHH) pathway is implicated in the etiology of the most common human cancer in Caucasians, the basal cell carcinoma (BCC). Mutations in the receptor of SHH, the patched gene, have been characterized in sporadic BCCs as well as those from patients with the rare genetic syndromes nevoid BCC and xeroderma pigmentosum (XP). To elucidate the role of UV in the deregulation of the S...

Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents. Important clinical features are: intense cutaneous photosensitivity, xerosis, poikiloderma, actinic keratosis, acute burning under minimal sun exposure, erythemas, hyperpigmented lentiginous...

The resistance of tumor cells to chemotherapeutic agents, such as cisplatin,is an important problem to be solved in cancer chemotherapy. One of the mechanisms associated with cisplatin resistance is nucleotide excision repair (NER). There are two pathways in NER, transcription-coupled NER (TC-NER) and global genome NER (GG-NER). Here, we report that TC-NER-deficient cells [xeroderma pigmentosum...

Analysis of transcription-coupled repair (TCR) of oxidative lesions here reveals strand-specific removal of 8-oxo-guanine (8-oxoG) and thymine glycol both in normal human cells and xeroderma pigmentosum (XP) cells defective in nucleotide excision repair. In contrast, Cockayne syndrome (CS) cells including CS-B, XP-B/CS, XP-D/CS, and XP-G/CS not only lack TCR but cannot remove 8-oxoG in a transc...

A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

SUMMARY Cell strains established from fibroblasts of 10 normal persons, 12 persons afflicted with xeroderma pigmentosum (XP), and 4 XP hétérozygotes have been used as hosts in studies on the repair of ultraviolet-irradiated human adeno-virus 2. The virus appeared most ultraviolet light sensitive when strains belonging to XP complementation Groups A and D were used as hosts, less sensitive whe...

EDITOR,—Xeroderma pigmentosum (XP), a rare autosomal recessive disorder characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation, manifesting mainly as intolerance of skin and eyes to light, has been described in all races, but is exceedingly rare in the negroid race, although some cases have been reported in both the American and African ...

EDITOR,—Xeroderma pigmentosum (XP), a rare autosomal recessive disorder characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation, manifesting mainly as intolerance of skin and eyes to light, has been described in all races, but is exceedingly rare in the negroid race, although some cases have been reported in both the American and African ...

EDITOR,—Xeroderma pigmentosum (XP), a rare autosomal recessive disorder characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation, manifesting mainly as intolerance of skin and eyes to light, has been described in all races, but is exceedingly rare in the negroid race, although some cases have been reported in both the American and African ...

Cell strains established from fibroblasts of 10 normal persons, 12 persons afflicted with xeroderma pigmentosum (XP), and 4 XP hétérozygotes have been used as hosts in studies on the repair of ultraviolet-irradiated human adenovirus 2. The virus appeared most ultraviolet light sensitive when strains belonging to XP complementation Groups A and D were used as hosts, less sensitive when strains...