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Keywords: Craniosynostosis
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Journal Articles
Journal: Development
Development (2022) 149 (1): dev200065.
Published: 4 January 2022
...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...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2022) 149 (1): dev199575.
Published: 4 January 2022
...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...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2017) 144 (21): 4026–4036.
Published: 1 November 2017
...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...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2012) 139 (7): 1346–1358.
Published: 1 April 2012
.... 5 2 2012 © 2012. Suture Morphogenesis Craniosynostosis In both invertebrates and vertebrates, developmental tissue organization is often achieved by segregation and compartmentalization of morphologically indistinct cell populations that arise from distinct embryonic...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2009) 136 (5): 855–864.
Published: 1 March 2009
... 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. The EphA4 mutant mouse...
Journal Articles
Journal: Development
Development (2007) 134 (1): 167–176.
Published: 1 January 2007
.... 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...
Journal Articles
Journal: Development
Development (2005) 132 (15): 3537–3548.
Published: 1 August 2005
... 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...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2005) 132 (8): 1995–2005.
Published: 15 April 2005
... 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...
Journal Articles
Journal: Development
Development (2002) 129 (16): 3783–3793.
Published: 15 August 2002
... in mature osteocytes during mineralization. *Author for correspondence (e-mail: peter.lonai@weizmann.ac.il ) 17 5 2002 © 2002. 2002 Transcriptional alternatives FGF Endochondral ossification Craniosynostosis Gene targeting Mouse Three of the four fibroblast growth...
Journal Articles
Journal: Development
Development (1988) 103 (Supplement): 207–212.
Published: 1 September 1988
... mechanism of abnormal sutural fusions are discussed. craniofacial deformity facial clefts microsomia dysostosis craniosynostosis Development 103 Supplement, 207-212 (1988) Printed in Great Britain © The Company of Biologists Limited 1988 207 The aetiology and pathogenesis of craniofacial deformity...