Kseroderma Pigmentozum

Başlangıç: 2003
Yayıncı: Erkan Mor

Transkripsiyon, replikasyon gibi temel biyolojik olayların DNA tamiri ile sıkı bir ilişki içerisinde olduğu ortaya konmuştur. DNA tamir yollarındaki hasarlar, DNA hasarına neden olan ajanlara karşı duyarlılık gösteren genetik hastalıkların moleküler temelinin anlaşılmasını sağlamaktadır

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1. Cleaver JE. Defective repair replication of DNA in Kseroderma pigmentozum. Nature 1968; 218: 652-56.
2. Cleaver JE. Kseroderma pigmentozum: variants with normal DNA repair and normal sensitivity to UV light. J Invest Dermatol 1972; 58: 124 -8.
3. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987 ; 123: 241-50
4. Wood RD. Seven genes for three diseases. Nature 1991; 350: 190.
5. Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I. Kseroderma pigmentozum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol. 2001; 5:225-42.
6. Greenhaw GA, Hebert A, Duke-Woodside ME, et al. Kseroderma pigmentozum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet 1992; 50: 677 - 89.
7. Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH and Robbins JH. Cockayne syndrome and kseroderma pigmentozum. Neurology 2000; 55: 1442-9.
8. Moriwaki S, Kraemer KH. Kseroderma pigmentozum--bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed. 2001; 17:47-54.
9. Goldstein B, Khilnani P, Lapey A, Cleaver JE, Rhodes AR. Combined immunodeficiency associated with kseroderma pigmentozum. Pediatr Dermatol 1990 ; 7:132-5.
10. Gennery AR, Cant AJ, Jeggo PA. Immunodeficiency associated with DNA repair defects. Clin Exp Immunol. 2000 ;121:1-7.
11. Kraemer KH, DiGiovanna JJ, Moshell AN, et al: Prevention of skin cancer in kseroderma pigmentozum with the use of oral isotretinoin. N Engl J Med 1988; 318: 1633-7.