rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2004-12-16
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pubmed:abstractText |
The etiology of the Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome, where congenitally the Mullerian ducts fail to develop into the uterus, cervix and upper vagina, along with other malformations, is unresolved. Anti-Mullerian hormone (AMH) signal transduction inducing the degradation of Mullerian ducts in males is implicated in the MRKH syndrome. This study examined if DNA sequence variations are responsible for the activation of AMH and aberrant hormone levels in MRKH patients.
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
|
pubmed:issn |
0268-1161
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pubmed:author |
|
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 |
149-57
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15550498-Abnormalities, Multiple,
pubmed-meshheading:15550498-Adolescent,
pubmed-meshheading:15550498-Adult,
pubmed-meshheading:15550498-Alleles,
pubmed-meshheading:15550498-Anti-Mullerian Hormone,
pubmed-meshheading:15550498-Ascitic Fluid,
pubmed-meshheading:15550498-Base Sequence,
pubmed-meshheading:15550498-Case-Control Studies,
pubmed-meshheading:15550498-DNA,
pubmed-meshheading:15550498-Exons,
pubmed-meshheading:15550498-Female,
pubmed-meshheading:15550498-Gene Expression,
pubmed-meshheading:15550498-Genetic Variation,
pubmed-meshheading:15550498-Genitalia, Female,
pubmed-meshheading:15550498-Glycoproteins,
pubmed-meshheading:15550498-Humans,
pubmed-meshheading:15550498-Middle Aged,
pubmed-meshheading:15550498-Mullerian Ducts,
pubmed-meshheading:15550498-Nucleoproteins,
pubmed-meshheading:15550498-Phenotype,
pubmed-meshheading:15550498-Promoter Regions, Genetic,
pubmed-meshheading:15550498-RNA-Binding Proteins,
pubmed-meshheading:15550498-Syndrome,
pubmed-meshheading:15550498-Testicular Hormones
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pubmed:year |
2005
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pubmed:articleTitle |
DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome.
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pubmed:affiliation |
Department of Gynaecology and Obstetrics and Department of Biochemistry at the University of Erlangen-Nuremberg, Erlangen, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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