RT Journal Article ID 099e89c2626b1db7 A1 Hatch, Nan E. T1 FGF Signaling in Craniofacial Biological Control and Pathological Craniofacial Development JF Critical Reviews™ in Eukaryotic Gene Expression JO CRE YR 2010 FD 2011-03-09 VO 20 IS 4 SP 295 OP 311 K1 craniofacial development K1 craniosynostosis K1 heparin sulfate proteoglycan K1 Frs2 K1 PLCgamma K1 MAPK AB Fibroblast growth factor receptors comprise a family of four evolutionarily conserved transmembrane proteins (FGFR1, FGFR2, FGFR3 and FGFR4) known to be critical for the normal development of multiple organ systems. In this review we will primarily focus upon the role of FGF/FGFR signaling as it influences the development of the craniofacial skeleton. Signaling by FGF receptors is regulated by the tissue-specific expression of FGFR isoforms, receptor subtype specific fibroblast growth factors and heparin sulfate proteoglycans. Signaling can also be limited by the expression of endogenous inhibitors. Gain-of-function mutations in FGFRs are associated with a series of congenital abnormality syndromes referred to as the craniosynostosis syndromes. Craniosynostosis is the clinical condition of premature cranial bone fusion and patients who carry craniosynostosis syndrome-associated mutations in FGFRs commonly have abnormalities of the skull vault in the form of craniosynostosis. Patients may also have abnormalities in the facial skeleton, vertebrae and digits. In this review we will discuss recent in vitro and in vivo studies investigating biologic mechanisms by which signaling through FGFRs influences skeletal development and can lead to craniosynostosis. PB Begell House LK https://www.dl.begellhouse.com/journals/6dbf508d3b17c437,236270b917b07d7f,099e89c2626b1db7.html