Source:http://linkedlifedata.com/resource/pubmed/id/19581335
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
9
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pubmed:dateCreated |
2009-8-13
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pubmed:abstractText |
Pluripotency associated transcription factor, SAL-Like 4 (SALL4), might play an important role in conferring totipotency on oocytes. In the present study, we screened SALL4 coding regions for mutations in 100 Han Chinese women with non-syndromic ovarian failure and discovered two novel non-synonymous variants in the SALL4 gene: c.541G>A (p.Val181Met) and c.2449A>G. (p.Thr817Ala). The former variant was located in an evolutionary conserved region of SALL4 protein and might affect its function. This is the first report to suggest that SALL4 might be a potential candidate gene of premature ovarian failure.
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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 |
Sep
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pubmed:issn |
1460-2407
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
557-62
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19581335-Adult,
pubmed-meshheading:19581335-Amino Acid Sequence,
pubmed-meshheading:19581335-Asian Continental Ancestry Group,
pubmed-meshheading:19581335-DNA Mutational Analysis,
pubmed-meshheading:19581335-Female,
pubmed-meshheading:19581335-Genetic Predisposition to Disease,
pubmed-meshheading:19581335-Humans,
pubmed-meshheading:19581335-Molecular Sequence Data,
pubmed-meshheading:19581335-Polymerase Chain Reaction,
pubmed-meshheading:19581335-Primary Ovarian Insufficiency,
pubmed-meshheading:19581335-Sequence Homology, Amino Acid,
pubmed-meshheading:19581335-Transcription Factors
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pubmed:year |
2009
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pubmed:articleTitle |
Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.
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pubmed:affiliation |
Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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