Source:http://linkedlifedata.com/resource/pubmed/id/10200950
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1999-6-28
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pubmed:abstractText |
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease that is characterized by the extreme sensitivity of the skin to sunlight. Compared to normal individuals, XP patients have a more than 1000-fold increased risk of developing cancer on sun-exposed areas of the skin. Genetic and molecular analyses have revealed that the repair of ultraviolet (UV)-induced DNA damage is impaired in XP patients owing to mutations in genes that form part of a DNA-repair pathway known as nucleotide excision repair (NER). Two other diseases, Cockayne syndrome (CS) and the photosensitive form of trichothiodystrophy (TTD), are linked to a defect in the NER pathway. Strikingly, although CS and TTD patients are UV-sensitive, they do not develop skin cancer. The recently developed animal models that mimic the human phenotypes of XP, CS and TTD will contribute to a better understanding of the etiology of these diseases and the role of UV-induced DNA damage in the development of skin cancer.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1357-4310
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
86-94
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pubmed:dateRevised |
2008-8-12
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pubmed:meshHeading |
pubmed-meshheading:10200950-Animals,
pubmed-meshheading:10200950-DNA Damage,
pubmed-meshheading:10200950-Disease Models, Animal,
pubmed-meshheading:10200950-Humans,
pubmed-meshheading:10200950-Skin Neoplasms,
pubmed-meshheading:10200950-Syndrome,
pubmed-meshheading:10200950-Ultraviolet Rays,
pubmed-meshheading:10200950-Xeroderma Pigmentosum
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pubmed:year |
1999
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pubmed:articleTitle |
Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer.
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pubmed:affiliation |
National Institute of Public Health and the Environment, Dept of Carcinogenesis, Mutagenesis and Genetics, Bilthoven, The Netherlands. h.van.steeg@rivm.nl
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pubmed:publicationType |
Journal Article,
Review
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