Linked Life Data

16801131

Source:http://linkedlifedata.com/resource/pubmed/id/16801131

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-6-27
pubmed:abstractText
The activating mutation FGFR3-R248C in the D2-D3 linker region of fibroblast growth factor receptor 3 leads as germline mutation to the neonatal lethal syndrome thanatophoric dysplasia type I (TD1). As somatic mutation it has been found in cancer. We introduced into the murine FGFR3 the mutation R242C that is orthologoues to the human mutation R248C. A strong reduction in binding of the 16 and 18 kDa forms of FGF1 to the mutant receptor was found, highlighting the importance of D2-D3 linker region of FGFR3 in determination of binding affinity to ligands. Another mutant, G374R, introduced into the murine FGFR3, is orthologoues to the human mutant FGFR3-G380R, and leads to achondroplasia (ACH). The binding of the 16 kDa and 18 kDa forms of FGF1 to this mutant receptor was the same as for wild-type FGFR3 in a cell-free system, but it was reduced in living cells. The data indicate a minor changes in conformation of FGFR3-G374R receptors at the cell surface that lead to reduced binding to FGF1.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0897-7194
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
111-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Reduced binding of FGF1 to mutant fibroblast growth factor receptor 3.
pubmed:affiliation
Department of Biochemistry, Institute for Cancer Research, The Norwegian Radium Hospital, University of Oslo, Norway.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't