Linked Life Data

1303257

Source:http://linkedlifedata.com/resource/pubmed/id/1303257

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-6-24
pubmed:abstractText
X-linked nephrogenic diabetes insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. It has been proposed that the kidney-specific V2 vasopressin receptor, a G protein-coupled receptor, is defective in this disorder as both the disease and the receptor map to Xq28. We report six unique mutations in the V2 receptor gene of five unrelated NDI patients, with one patient having two mutations. The most severely affected patient has a nonsense mutation which would terminate the protein in transmembrane domain III. Other mutations include three missense mutations, a frameshift and one small in-frame deletion. These results represent one of the first examples of recessive mutations affecting a G protein-coupled receptor.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1061-4036
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:geneSymbol
V2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
103-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
pubmed:affiliation
Howard Hughes Medical Institute, University of California, San Francisco 94143.
pubmed:publicationType
Journal Article, Comparative Study