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Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis
Published on: April 1, 2022
Altered FGF signalling in congenital craniofacial and skeletal disorders
Shahida Moosa1, Bernd Wollnik1
1Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute of Human Genetics, University of Cologne, Cologne, Germany.
Abstract:
The fibroblast growth factor (FGF) signalling pathway has been the focus of intense genetic and functional research for several decades. The emerging data implicate FGF signalling in diverse regulatory processes, both in the developing embryo as well as in the adult organism. Alterations in this tightly regulated pathway can lead to a number of pathological conditions, ranging from well-recognized congenital disorders to cancer. In order to mediate their cellular processes, FGFs signal through a subfamily of tyrosine kinase receptors, called FGF receptors (FGFRs). In humans, four FGFRs are described, and, to date, mutations in FGFR1, FGFR2, and FGFR3 have been shown to underlie human developmental disorders. FGFs/FGFRs are known to be key players in both endochondral and intramembranous bone development. In this review, we focus on the major developmental craniofacial and skeletal disorders which result from altered FGF signalling.
Insights
Fibroblast growth factor (FGF) signaling regulates development. Mutations in FGF receptors (FGFRs) cause craniofacial and skeletal disorders.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- The fibroblast growth factor (FGF) signaling pathway is crucial for embryonic and adult regulatory processes.
- Dysregulation of FGF signaling is linked to congenital disorders and cancer.
- FGFs mediate cellular functions via FGF receptors (FGFRs), a tyrosine kinase receptor subfamily.
Purpose of the Study:
- To review major developmental craniofacial and skeletal disorders.
- To highlight the role of altered FGF signaling in these conditions.
Main Methods:
- Review of existing genetic and functional research on FGF signaling.
- Focus on craniofacial and skeletal developmental disorders.
Main Results:
- Four types of FGFRs exist in humans.
- Mutations in FGFR1, FGFR2, and FGFR3 are associated with human developmental disorders.
- FGFs/FGFRs are critical for both endochondral and intramembranous bone development.
Conclusions:
- Altered FGF signaling pathways contribute significantly to craniofacial and skeletal developmental abnormalities.
- Understanding FGF/FGFR roles is key to addressing these disorders.
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