.... Separating these bones are fibrous sutures that permit growth. Currently, we do not understand the instructions for directional growth of the calvaria, a process which is error-prone and can lead to skeletal deficiencies or premature suture fusion (craniosynostosis, CS). Here, we identify graded expression...

... and signaling pathways that control suture patency and highlight how perturbing the molecular regulation of these pathways leads to craniosynostosis. Finally, we discuss the recently discovered tissue and signaling interactions that integrate skull and cerebrovascular development, and the potential implications...

...Man-chun Ting; D'Juan T. Farmer; Camilla S. Teng; Jinzhi He; Yang Chai; J. Gage Crump; Robert E. Maxson ABSTRACT A major feature of Saethre-Chotzen syndrome is coronal craniosynostosis, the fusion of the frontal and parietal bones at the coronal suture. It is caused by heterozygous loss-of-function...

...Phillip S. Ang; Matt J. Matrongolo; Max A. Tischfield ABSTRACT Skull malformations are associated with vascular anomalies that can impair fluid balance in the central nervous system. We previously reported that humans with craniosynostosis and mutations in TWIST1 have dural venous sinus...

...Fenglei He; Philippe Soriano Craniosynostosis is a prevalent human birth defect characterized by premature fusion of calvarial bones. In this study, we show that tight regulation of endogenous PDGFRα activity is required for normal calvarium development in the mouse and that dysregulated PDGFRα...

... – 320 . Chen L. , Li D. , Li C. , Engel A. , Deng C. X. ( 2003 ). A Ser252Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis . Bone 33 , 169 – 178 . Connerney J. , Andreeva V. , Leshem Y...

... precursor cells that contribute to the frontal and parietal bones, we show that Twist1 and EphA4 are required for the exclusion of such cells from the coronal suture. We suggest that the failure of this process in Twist1 and EphA4 mutants is the cause of craniosynostosis. Finally we note that our...

.... Finally, the Dusp6 mutant allele causes variably penetrant, dominant postnatal lethality, skeletal dwarfism,coronal craniosynostosis and hearing loss; phenotypes that are also characteristic of mutations that activate FGFRs inappropriately. Taken together, these results show that DUSP6 serves in vivo...

... of the skeleton, as well as of other organs including the brain, thymus, lungs, heart and intestines. In the mutant neurocranium, we found a midline sutural defect and craniosynostosis with abnormal osteoblastic proliferation and differentiation. We noted ectopic cartilage at the midline sagittal suture...

... structures, a phenotype resembling craniosynostosis in humans. In the mutants, premature fusion of cranial sutures occurs at early postnatal stages. To elucidate the mechanism of craniosynostosis, we studied intramembranous ossification in Axin2 -null mice. The calvarial osteoblast development...

... in the skeletogenic mesenchyme ( Orr-Urtreger et al., 1993 ), and activating mutations in exon 9 of the human FGFR2 gene are associated with craniosynostosis ( Wilkie, 1997 ). To create a loss-of-function phenotype, we introduced a point mutation into exon 9 of Fgfr2 , which caused a frame-shift and created...

...David P. C. Rice; Thomas Åberg; Yan-Shun Chan; Zequn Tang; Päivi J. Kettunen; Leila Pakarinen; Robert E. Maxson, Jr; Irma Thesleff ABSTRACT Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency...

... absorption with skeletal growth reflects our lack of knowledge about the causes of malformations. None-the-less, we are coming to recognize some of the many factors that influence the design of the craniofacial complex. craniofacial deformity facial clefts microsomia dysostosis craniosynostosis...