Linked Life Data

17982384

Source:http://linkedlifedata.com/resource/pubmed/id/17982384

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2007-11-5
pubmed:abstractText
McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, café-au-lait pigmented skin lesions and endocrinopathy (1,2) The molecular lesion in MAS is a postzygotic mutation in the GNAS gene that leads to activation of Gsalpha, the alpha chain of the heterotrimeric G protein, Gsalpha. Cells that carry the activating mutation are distributed in a mosaic pattern. A clinical diagnosis of MAS can be made when a patient is found to have at least two features of the classical triad (3). Because of the restricted pattern of distribution of the GNAS mutation, termed gsp, initial molecular analyses were limited to lesional tissue, but recent techniques such as peptide nucleic acid clamping have improved the sensitivity of current assays and now enable the detection of gsp mutations in circulating cells from many patients with MAS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1565-4753
pubmed:author
pubmed:issnType
Print
pubmed:volume
4 Suppl 4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
380-5
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Genetic and molecular aspects of McCune-Albright syndrome.
pubmed:affiliation
Department of Orthopaedic Surgery, Cleveland Clinic Lerner Research Institute, ND20, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA.
pubmed:publicationType
Journal Article, Review