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Published on: October 27, 2020
TGF-beta signaling in human skeletal and patterning disorders
1Department of Cell Biology, University of Alabama, Birmingham 35294-0005, USA. rserra@cellbio.bhs.uab.edu
Abstract:
Members of the transforming growth factor beta (TGF-beta) family of multifunctional peptides are involved in almost every aspect of development. Model systems, ranging from genetically tractable invertebrates to genetically engineered mice, have been used to determine the mechanisms of TGF-beta signaling in normal development and in pathological situations. Furthermore, mutations in genes for the ligands, receptors, extracellular modulators, and intracellular signaling molecules have been associated with several human disorders. The most common are those associated with the development and maintenance of the skeletal system and axial patterning. This review focuses on the mechanisms of TGF-beta signaling with special emphasis on the molecules involved in human disorders of patterning and skeletal development.
Insights
Transforming growth factor beta (TGF-beta) signaling is crucial for development. This review highlights TGF-beta
Area of Science:
- Developmental Biology
- Molecular Biology
- Genetics
Background:
- Transforming growth factor beta (TGF-beta) family peptides regulate numerous developmental processes.
- Dysregulation of TGF-beta signaling is implicated in various human disorders.
- Skeletal development and axial patterning are particularly sensitive to TGF-beta pathway perturbations.
Purpose of the Study:
- To review the mechanisms of TGF-beta signaling in development.
- To emphasize the role of TGF-beta pathway molecules in human skeletal and patterning disorders.
Main Methods:
- Review of existing literature on TGF-beta signaling.
- Analysis of data from model systems (invertebrates, mice).
- Examination of genetic mutations associated with human developmental disorders.
Main Results:
- TGF-beta signaling is essential for diverse developmental events.
- Mutations in TGF-beta pathway components cause significant human diseases.
- Specific focus on skeletal and axial patterning defects.
Conclusions:
- Understanding TGF-beta signaling mechanisms is key to addressing developmental disorders.
- Targeting TGF-beta pathway molecules offers potential therapeutic avenues for skeletal and patterning defects.
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