Source:http://linkedlifedata.com/resource/pubmed/id/15770078
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2005-3-16
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pubmed:abstractText |
Glucocorticoid receptor, encoded by NR3C1, is a transcriptional regulator of many drug metabolizing enzymes and anti-inflammatory molecules. In order to identify genetic variations of the NR3C1 gene, genomic DNA from 265 Japanese individuals was sequenced. Fifty genetic polymorphisms were identified, including 32 novel ones [3 were in coding exons, 17 in the introns, 4 in the 5'-untranslated region (UTR), and 8 in the 5'-flanking region]. The novel nonsynonymous variation was 420G>T (Lys140Asn), and the allele frequency was 0.004. We did not detect any nonsynonymous polymorphism reported previously in other races, including a relatively frequent SNP Asn363Ser found in Caucasians and African-Americans. Thus, ethnic differences between Japanese and other races are suggested to exist in NR3C1.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1347-4367
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pubmed:author |
pubmed-author:KoyanoSatoruS,
pubmed-author:KuroseKouichiK,
pubmed-author:MatsumotoKenjiK,
pubmed-author:MinamiHironobuH,
pubmed-author:NakajimaToshiharuT,
pubmed-author:OhtsuAtsushiA,
pubmed-author:OzawaShogoS,
pubmed-author:SaiKimieK,
pubmed-author:SaijoNagahiroN,
pubmed-author:SaitoHirohisaH,
pubmed-author:SaitoYoshiroY,
pubmed-author:SawadaJun-ichiJ,
pubmed-author:ShiraoKuniakiK,
pubmed-author:YoshidaTeruhikoT
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pubmed:issnType |
Print
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
79-84
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15770078-Amino Acid Substitution,
pubmed-meshheading:15770078-Asian Continental Ancestry Group,
pubmed-meshheading:15770078-Base Sequence,
pubmed-meshheading:15770078-DNA Primers,
pubmed-meshheading:15770078-Exons,
pubmed-meshheading:15770078-Humans,
pubmed-meshheading:15770078-Introns,
pubmed-meshheading:15770078-Japan,
pubmed-meshheading:15770078-Polymorphism, Genetic,
pubmed-meshheading:15770078-Polymorphism, Single Nucleotide,
pubmed-meshheading:15770078-Receptors, Glucocorticoid
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pubmed:year |
2005
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pubmed:articleTitle |
Novel genetic polymorphisms in the NR3C1 (glucocorticoid receptor) gene in a Japanese population.
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pubmed:affiliation |
Project Team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan. skoyano@nihs.go.jp
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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