Source:http://linkedlifedata.com/resource/pubmed/id/19170711
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2009-8-25
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pubmed:abstractText |
X-linked nephrogenic diabetes insipidus (XNDI), caused by mutations in the V2 vasopressin receptor (V2R), is clinically distinguished from central diabetes insipidus (CDI) by elevated serum vasopressin (AVP) levels and unresponsiveness to 1-desamino-8-d-arginine vasopressin (DDAVP). We report two infants with XNDI, and present the characterization and functional rescue of a novel V2R mutation.
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pubmed:grant | |
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 |
1365-2265
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
71
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
388-93
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pubmed:dateRevised |
2010-12-17
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pubmed:meshHeading |
pubmed-meshheading:19170711-Cell Line,
pubmed-meshheading:19170711-Cell Membrane,
pubmed-meshheading:19170711-Diabetes Insipidus, Nephrogenic,
pubmed-meshheading:19170711-Genetic Diseases, X-Linked,
pubmed-meshheading:19170711-Humans,
pubmed-meshheading:19170711-Infant,
pubmed-meshheading:19170711-Male,
pubmed-meshheading:19170711-Morpholines,
pubmed-meshheading:19170711-Mutation,
pubmed-meshheading:19170711-Protein Transport,
pubmed-meshheading:19170711-Receptors, Vasopressin,
pubmed-meshheading:19170711-Spiro Compounds
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pubmed:year |
2009
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pubmed:articleTitle |
Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus.
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pubmed:affiliation |
Department of Pediatrics, Division of Endocrinology, University of California San Francisco, San Francisco, CA 94143, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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