Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

NB Agochukwu, BD Solomon, M Muenke - Child's Nervous System, 2012 - Springer
Purpose More than 60 different mutations have been identified to be causal in syndromic
forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth …

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

JB Rivière, BWM Van Bon, A Hoischen… - Nature …, 2012 - nature.com
Brain malformations are individually rare but collectively common causes of developmental
disabilities,,. Many forms of malformation occur sporadically and are associated with …

Development of the lip and palate: FGF signalling

P Stanier, E Pauws - Cleft Lip and Palate, 2012 - karger.com
The fibroblast growth factor (FGF) signalling pathway is critically involved in several aspects
of craniofacial development, including formation of the lip and the palate. FGF receptors are …

[HTML][HTML] Novel regulation of fibroblast growth factor 2 (FGF2)-mediated cell growth by polysialic acid

S Ono, M Hane, K Kitajima, C Sato - Journal of Biological Chemistry, 2012 - ASBMB
Polysialic acid (polySia) is a unique polysaccharide that modifies neural cell adhesion
molecule (NCAM) spatiotemporally. Recently, we demonstrated that polySia functions as a …

The effect of co-culturing costal chondrocytes and dental pulp stem cells combined with exogenous FGF9 protein on chondrogenesis and ossification in engineered …

J Dai, J Wang, J Lu, D Zou, H Sun, Y Dong, H Yu… - Biomaterials, 2012 - Elsevier
Dental pulp stem cells (DPSCs), which arise from cranial neural crest cells, are multipotent,
making them a candidate for use in tissue engineering that may be especially useful for …

[HTML][HTML] Endogenously produced FGF2 is essential for the survival and proliferation of cultured mouse spermatogonial stem cells

Y Zhang, S Wang, X Wang, S Liao, Y Wu, C Han - Cell research, 2012 - nature.com
The in vitro propagation (IVP) of animal spermatogonial stem cells (SSCs) provides
materials for studying the mechanism of spermatogenesis and for developing novel animal …

[HTML][HTML] Physical–chemical principles underlying RTK activation, and their implications for human disease

L He, K Hristova - Biochimica et Biophysica Acta (BBA)-Biomembranes, 2012 - Elsevier
RTKs, the second largest family of membrane receptors, exert control over cell proliferation,
differentiation and migration. In recent years, our understanding of RTK structure and …

[HTML][HTML] Inhibition of α-SMA by the ectodomain of FGFR2c attenuates lung fibrosis

W Ju, Y Zhihong, Z Zhiyou, H Qin, W Dingding, S Li… - Molecular …, 2012 - Springer
The soluble ectodomain of fibroblast growth factor receptor-IIIc (sFGFR2c) is able to bind to
fibroblast growth factor (FGF) ligands and block the activation of the FGF-signaling pathway …

[HTML][HTML] Direct and allosteric inhibition of the FGF2/HSPGs/FGFR1 ternary complex formation by an antiangiogenic, thrombospondin-1-mimic small molecule

K Pagano, R Torella, C Foglieni, A Bugatti… - PLoS …, 2012 - journals.plos.org
Fibroblast growth factors (FGFs) are recognized targets for the development of therapies
against angiogenesis-driven diseases, including cancer. The formation of a ternary complex …

Muenke Syndrome Mutation, FgfR3P244R, Causes TMJ Defects

T Yasuda, HD Nah, J Laurita… - Journal of dental …, 2012 - journals.sagepub.com
Muenke syndrome is characterized by various craniofacial deformities and is caused by an
autosomal-dominant activating mutation in fibroblast growth factor receptor 3 …