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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2007-11-9
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pubmed:abstractText |
We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr). Nonsynonymous single-nucleotide polymorphisms c.436C>T and c.1283G>C were also detected in the control population. The c.712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-10379899,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-10888873,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-11373170,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-12836721,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-14627550,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-14970198,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-16278619,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-16645022,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-16722528,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-16954162,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-17027369,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-3960433,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-6572363,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-7672145,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-8566258,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-8849725,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-9243205,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17482612-9740426
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1556-5653
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
88
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1474-6
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
pubmed-meshheading:17482612-Adult,
pubmed-meshheading:17482612-Alanine,
pubmed-meshheading:17482612-Amino Acid Substitution,
pubmed-meshheading:17482612-Asian Continental Ancestry Group,
pubmed-meshheading:17482612-Bone Morphogenetic Protein 15,
pubmed-meshheading:17482612-DNA Mutational Analysis,
pubmed-meshheading:17482612-Female,
pubmed-meshheading:17482612-Growth Differentiation Factor 9,
pubmed-meshheading:17482612-Humans,
pubmed-meshheading:17482612-Intercellular Signaling Peptides and Proteins,
pubmed-meshheading:17482612-Mutation,
pubmed-meshheading:17482612-Polymorphism, Single Nucleotide,
pubmed-meshheading:17482612-Primary Ovarian Insufficiency,
pubmed-meshheading:17482612-Threonine
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pubmed:year |
2007
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pubmed:articleTitle |
Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.
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pubmed:affiliation |
Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, China.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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