PMID: 5257133Jun 1, 1969Paper

Xeroderma pigmentosum: a human disease in which an initial stage of DNA repair is defective

Proceedings of the National Academy of Sciences of the United States of America
J E Cleaver

Abstract

Homozygous xeroderma pigmentosum fibroblasts cannot repair damage to DNA bases, but can repair damage that involves chain breaks. In xeroderma pigmentosum, therefore, there is a defect in an early step in repair at which base damage is recognized and the polynucleotide chain broken enzymatically (by an endonuclease). Heterozygous fibroblasts repair base damage to normal extents. Carcinogenesis in xeroderma pigmentosum, and perhaps in some normal individuals, may be the result of somatic mutations caused by unrepaired damage.

References

Apr 1, 1967·Proceedings of the National Academy of Sciences of the United States of America·B Weiss, C C Richardson
May 1, 1967·Proceedings of the National Academy of Sciences of the United States of America·B M Olivera, I R Lehman
Jul 23, 1968·Biochimica Et Biophysica Acta·J R Cleaver, R B Painter
Apr 1, 1966·The Journal of Cell Biology·R E Rasmussen, R B Painter
Oct 28, 1967·Nature·R B Painter, J E Cleaver
Aug 1, 1964·Journal of Molecular Biology·D PETTIJOHN, P HANAWALT
Mar 1, 1965·Annals of Human Genetics·H EL-HEFNAWIL S PENROSE

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Citations

Apr 3, 2008·Inflammatory Bowel Diseases·Jessica S Maddox, Keyoumars Soltani
Jan 1, 1971·Archiv Für Dermatologische Forschung·W E MüllerG W Korting
Jan 1, 1971·Archiv Für Dermatologische Forschung·E G JungG von Knobloch
Jan 1, 1994·Journal of Cancer Research and Clinical Oncology·X XiaH W Thielmann
Jan 1, 1993·Journal of Cancer Research and Clinical Oncology·M RotheH W Thielmann
Mar 1, 1979·Somatic Cell Genetics·T Shiomi, K Sato
Oct 27, 2010·Irish Journal of Medical Science·B ZhouD Luo
Oct 1, 1972·Chemico-biological Interactions·W N BrandtN J Bernheim
Apr 1, 1976·Chemico-biological Interactions·J V Frei
Mar 1, 1978·Chemico-biological Interactions·J D ReganD M Jerina
Feb 1, 1972·Mutation Research·R B Painter, B R Young
Jul 1, 1972·Mutation Research·A NormanI Klisak
Jan 1, 1972·Pediatriia·M M Levin, E P Stepanova-Tsygankova
Feb 1, 1973·Mutation Research·D Krishnan, R B Painter
Jan 1, 1974·Mutation Research·E A de Weerd-KasteleinD Bootsma
Aug 1, 1984·Mutation Research·J G DeLucaW G Thilly

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