Source:http://linkedlifedata.com/resource/pubmed/id/20464958
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2010-5-14
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pubmed:abstractText |
The genes of detoxication, MTHFR and p53 were studied in Down' and Ehlers-Danlos syndrome cells. The frequency GSTM1(0/0) genotype in Down syndrome patients was in 1.5 times higher than in control cells (p < 0.069). Opposite the frequency GSTM1(0/0) genotype in Ehlers-Danlos syndrome was 23.3% 2 times lower than in control cells (p < 0.034). This indication was in 2 times lower in women cells than in men cells and in 3 times lower than in control cells (p < 0.026). The mutations of p53 gene (7th exon) were detected in 4 from 11 Down patients (36.7%; in 2 cases af women and men), in Ehlers-Danlos patients--in 5 cases and only in men (29.4% among all the observed patients). The observations 24 healthy donors weren't revealed any mutations (p < 0.013-0.001). The hypothesis about the connection between gene polymorphisms which take a part in genome stability and radiosensitivity in Down and Ehlers-Danlos patients was developed.
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pubmed:language |
rus
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
0869-8031
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
128-33
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pubmed:meshHeading |
pubmed-meshheading:20464958-Adolescent,
pubmed-meshheading:20464958-Child,
pubmed-meshheading:20464958-Child, Preschool,
pubmed-meshheading:20464958-Down Syndrome,
pubmed-meshheading:20464958-Ehlers-Danlos Syndrome,
pubmed-meshheading:20464958-Female,
pubmed-meshheading:20464958-Gene Frequency,
pubmed-meshheading:20464958-Humans,
pubmed-meshheading:20464958-Male,
pubmed-meshheading:20464958-Methylenetetrahydrofolate Reductase (NADPH2),
pubmed-meshheading:20464958-Polymorphism, Genetic,
pubmed-meshheading:20464958-Radiation Tolerance,
pubmed-meshheading:20464958-Tumor Suppressor Protein p53
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pubmed:articleTitle |
[Investigation of detoxification polymorphisms genes, methylenetetrahydrofolate-reductase (MTHFR) and P53 in the radiosensitive human cells].
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pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't
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