TY - JOUR
T1 - TGF-β family signaling in connective tissue and skeletal diseases
AU - Macfarlane, Elena Gallo
AU - Haupt, Julia
AU - Dietz, Harry C.
AU - Shore, Eileen M.
N1 - Funding Information:
This work is supported in part through the Howard Hughes Medical Institute, the Leducq Foundation, the Center for Research in FOP and Related Disorders at the University of Pennsylvania, the International Fibrodysplasia Ossificans Progressiva Association (IFOPA), the Progressive Osseous Heteroplasia Association (POHA), the Ian Cali Endowment, the Weldon Family Endowment, the Cali/Weldon Professorship (to E.M.S.), and by Grants from the National Institutes of Health (R01-AR41916, R01-AR046831, R01-AR41135-21, K99-HL121287). We thank the members of our laboratories for helpful discussions.
Publisher Copyright:
© 2017 Cold Spring Harbor Laboratory Press; all rights reserved.
PY - 2017/11
Y1 - 2017/11
N2 - The transforming growth factor b (TGF-β) family of signaling molecules, which includes TGF-βs, 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-β family members play different roles in these tissues, and their activities are often balanced with those of other TGF-β family members and by interactions with other signaling pathways. Perturbations in TGF-β 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-β family of signaling mediators and the extracellular matrix in connective tissues.
AB - The transforming growth factor b (TGF-β) family of signaling molecules, which includes TGF-βs, 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-β family members play different roles in these tissues, and their activities are often balanced with those of other TGF-β family members and by interactions with other signaling pathways. Perturbations in TGF-β 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-β family of signaling mediators and the extracellular matrix in connective tissues.
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U2 - 10.1101/cshperspect.a022269
DO - 10.1101/cshperspect.a022269
M3 - Review article
C2 - 28246187
AN - SCOPUS:85031092355
SN - 1943-0264
VL - 9
JO - Cold Spring Harbor Perspectives in Biology
JF - Cold Spring Harbor Perspectives in Biology
IS - 11
M1 - a022269
ER -