Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2008-4-8
pubmed:abstractText
Recent advances in molecular genetics have led to a better understanding of the role of specific genes such as fibroblast growth factor receptor (FGFR) and Twist in cranial bone formation. Specifically, the analysis of osteoblast abnormalities induced by FGFR2 and Twist genetic mutations inducing craniosynostosis in humans has provided some insights into the role of these genes in the premature cranial suture formation in syndromic craniosynostosis. This also led to a better understanding of the cellular and molecular mechanisms that control osteoblast biology and pathology in humans. In this review paper, we summarize the effects of FGFR2 and Twist genetic mutations resulting in altered osteoblast phenotype and premature cranial fusion based on our analysis in human syndromic craniosynostosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1420-2433
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
144-59
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts.
pubmed:affiliation
INSERM U 606 and University Paris 7, Hopital Lariboisiere, Paris, France. pierre.marie@larib.inserm.fr
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't