Linked Life Data

10603009

Source:http://linkedlifedata.com/resource/pubmed/id/10603009

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11-12
pubmed:dateCreated
2000-1-21
pubmed:abstractText
The genetic studies of syndromic craniosynostoses lead to the characterisation of genes that regulate the correct development of the bones of the skull. From these studies, it appears that FGF/FGFR signalling has a crucial role in this problem. Numerous mutations affecting the genes coding for FGFR1, 2 or 3 are responsible for these syndromes. It is interesting to note that some identical mutations produced various different phenotypes, suggesting that other genes modulate the phenotypic expressivity. The other involved genes in these syndromes code for such proteins as Msx2 or Twist that interact in the cellular pathways responsible for FGF action. From these genetic studies, it is now important to establish the role of these proteins during the development of the skull. Msx2 plays a repressive role in osteogenesis, whereas FGFRs act as promoting proteins. In the near future, it will be very important to improve our understanding of these phenomena in order to test specific treatments to prevent the development of such syndromes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0256-7040
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
676-80
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Craniosynostosis: from a clinical description to an understanding of bone formation of the skull.
pubmed:affiliation
Service de Neurochirurgie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.
pubmed:publicationType
Journal Article, Review