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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1995-10-18
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pubmed:abstractText |
The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human hypertension thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD). This enzyme normally converts cortisol to inactive cortisone and is postulated to thus confer specificity for aldosterone upon the mineralocorticoid receptor. We have analysed the gene encoding the kidney isozyme of 11 beta HSD and found mutations on both alleles in nine of 11 AME patients (eight of nine kindreds). These mutations markedly affect enzymatic activity. They thus permit cortisol to occupy the renal mineralocorticoid receptor and thereby cause sodium retention and hypertension.
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pubmed:grant |
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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 |
Aug
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
10
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pubmed:geneSymbol |
HSD11K
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
394-9
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:7670488-11-beta-Hydroxysteroid Dehydrogenases,
pubmed-meshheading:7670488-Adolescent,
pubmed-meshheading:7670488-Adult,
pubmed-meshheading:7670488-Base Sequence,
pubmed-meshheading:7670488-Child,
pubmed-meshheading:7670488-Child, Preschool,
pubmed-meshheading:7670488-DNA Primers,
pubmed-meshheading:7670488-Female,
pubmed-meshheading:7670488-Humans,
pubmed-meshheading:7670488-Hydroxysteroid Dehydrogenases,
pubmed-meshheading:7670488-Hypertension,
pubmed-meshheading:7670488-Infant,
pubmed-meshheading:7670488-Infant, Low Birth Weight,
pubmed-meshheading:7670488-Infant, Newborn,
pubmed-meshheading:7670488-Isoenzymes,
pubmed-meshheading:7670488-Kidney,
pubmed-meshheading:7670488-Male,
pubmed-meshheading:7670488-Mineralocorticoids,
pubmed-meshheading:7670488-Molecular Sequence Data,
pubmed-meshheading:7670488-Mutation,
pubmed-meshheading:7670488-Risk Factors
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pubmed:year |
1995
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pubmed:articleTitle |
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
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pubmed:affiliation |
Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75235-9063, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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