Linked Life Data

8514744

Source:http://linkedlifedata.com/resource/pubmed/id/8514744

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
18
pubmed:dateCreated
1993-7-22
pubmed:abstractText
The coding region of the human vasopressin type 2 receptor gene bears mutations in the individuals affected with congenital nephrogenic diabetes insipidus, a disease characterized by the inability of the kidney to concentrate urine in response to vasopressin. Although it is assumed that the mutations result in loss of receptor function, proof of this hypothesis is lacking. We introduced one of these naturally occurring point mutations leading to a single amino acid change (Arg137-->His) into wild type cDNA. The mutant protein was expressed, and the functional properties of the receptor were examined. The mutant receptor exhibited an unaltered binding affinity for vasopressin compared to the wild type but failed to stimulate the Gs/adenylyl cyclase system. These data provide biochemical proof that the mutant receptor is the cause of the disease.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0021-9258
pubmed:author
pubmed:issnType
Print
pubmed:day
25
pubmed:volume
268
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
13030-3
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
pubmed:affiliation
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't