期刊
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY
卷 9, 期 11, 页码 -出版社
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/cshperspect.a022269
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资金
- Howard Hughes Medical Institute
- Leducq Foundation
- Center for Research in FOP and Related Disorders at the University of Pennsylvania
- International Fibrodysplasia Ossificans Progressiva Association (IFOPA)
- Progressive Osseous Heteroplasia Association (POHA)
- Ian Cali Endowment
- Weldon Family Endowment
- Cali/Weldon Professorship
- National Institutes of Health [R01-AR41916, R01-AR046831, R01-AR41135-21, K99-HL121287]
The transforming growth factor beta (TGF-beta) family of signaling molecules, which includes TGF-beta s, activins, inhibins, and numerous bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs), has important functions in all cells and tissues, including soft connective tissues and the skeleton. Specific TGF-beta family members play different roles in these tissues, and their activities are often balanced with those of other TGF-beta family members and by interactions with other signaling pathways. Perturbations in TGF-beta family pathways are associated with numerous human diseases with prominent involvement of the skeletal and cardiovascular systems. This review focuses on the role of this family of signaling molecules in the pathologies of connective tissues that manifest in rare genetic syndromes (e.g., syndromic presentations of thoracic aortic aneurysm), as well as in more common disorders (e.g., osteoarthritis and osteoporosis). Many of these diseases are caused by or result in pathological alterations of the complex relationship between the TGF-beta family of signaling mediators and the extracellular matrix in connective tissues.
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