Craniosynostoses
Mostrando 1-4 de 4 artigos, teses e dissertações.
-
1. Estudos moleculares de craniossinostoses com enfase na mutação Q289P do gene FGFR2 / Molecular of craniosynostosis and the mutation Q289P in the FGFR2 gene
The FGFRs family is involved in the molecular pathway which plays a role in modulation of the craniofacial and members development in humans. Mutations in genes FGFR1, FGFR2 and FGFR3 have been associated to different phenotypes presenting craniosynostosis and other bone diseases. The FGFR2 gene codifies a fibroblast growth factor receptor. The mutation Q289
Publicado em: 2008
-
2. Pitfalls in counselling: the craniosynostoses.
We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members. In the third family, identical twins were initially thought to be discordant for sagittal craniosynostosis unti
-
3. The Craniosynostoses: Causes, Natural History and Management
-
4. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes
Intercellular signaling by fibroblast growth factors plays vital roles during embryogenesis. Mice deficient for fibroblast growth factor receptors (FgfRs) show abnormalities in early gastrulation and implantation, disruptions in epithelial–mesenchymal interactions, as well as profound defects in membranous and endochondrial bone formation. Activating
The National Academy of Sciences.