xeroderma pigmentosum/asthenia

Xeroderma pigmentosum (XP) is a hereditary disease characterized by a defect in the excision-repair mode of ultraviolet light damage and a high incidence of skin tumors. Cultured fibroblasts from normal and XP cells at low population doubling times were compared by induction of mild spreading of

A case of group D xeroderma pigmentosum is reported. This 26-year-old woman was normal delivery, and showed a normal psychomotor development. Her parents noted a patchy brownish pigmentation on her limbs, face and trunk soon after the birth. Gait disturbance appeared at 17 years old and progressed

As part of TFIIH, XPB and XPD helicases have been shown to play a role in nucleotide excision repair (NER). Mutations in these subunits are associated with three genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The strong heterogeneous clinical

A genetic mouse model with a disrupted XPG allele was generated by insertion of neo cassette sequences into exon 3 of the XPG gene by using embryonic stem (ES) cell techniques. The xpg-deficient mice showed distinct developmental characteristics. Their body was marked smaller than that in wild-type

BACKGROUND Trichothiodystrophy is an autosomal recessive genodermatosis associating congenital dysplasia of the hair and neuroectodermal defects. Clinical expression is variable, although abnormalities are generally noted from birth. We report trichothiodystrophy in two brothers with the same

Multi-modality evoked potentials in two cases, who were siblings, of De Sanctis-Cacchione syndrome were reported. The case 1, who was elder sister of the case 2, was a 25-year-old female. And the case 2 was a 23-year-old female. They have the history of consanguinity. They were first noted to have