Source:http://linkedlifedata.com/resource/pubmed/id/20219431
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2010-3-30
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pubmed:abstractText |
This study screened FOXO3 coding regions for mutations in a sample of 114 Chinese women with premature ovarian failure and discovered six novel single-nucleotide variants: c.71C>A (p.Pro24His), c.140C>T (p.Pro47Leu), c.184G>A (p.Asp62Asn), c.1652C>T (p.Ser551Phe), c.1697C>G (p.Gly566Ala) and c.1185G>A (silent). The nonsynonymous single-nucleotide variants, c.71C>A (p.Pro24His), c.140C>T (p.Pro47Leu), c.184G>A (p.Asp62Asn), c.1652C>T (p.Ser551Phe) and c.1697C>G (p.Gly566Ala), were not detected in any of 100 controls. These missense mutations might cause abnormal oocyte apoptosis and primordial follicle activation, thereby adversely affecting early follicle depletion in the ovary.
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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 |
Apr
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pubmed:issn |
1472-6491
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pubmed:author | |
pubmed:copyrightInfo |
Copyright (c) 2010. Published by Elsevier Ltd.
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pubmed:issnType |
Electronic
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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 |
499-503
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pubmed:meshHeading |
pubmed-meshheading:20219431-Adult,
pubmed-meshheading:20219431-Asian Continental Ancestry Group,
pubmed-meshheading:20219431-Female,
pubmed-meshheading:20219431-Forkhead Transcription Factors,
pubmed-meshheading:20219431-Humans,
pubmed-meshheading:20219431-Infertility, Female,
pubmed-meshheading:20219431-Mutation, Missense,
pubmed-meshheading:20219431-Primary Ovarian Insufficiency
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pubmed:year |
2010
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pubmed:articleTitle |
Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure.
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pubmed:affiliation |
Graduate School, Peking Union Medical College, Beijing, PR China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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