TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

被引：89

作者：

MacFarlane, Elena Gallo ^{[1
]}

Haupt, Julia ^{[2
,3
]}

Dietz, Harry C. ^{[1
,4
]}

Shore, Eileen M. ^{[2
,3
,5
]}

机构：

[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

[2] Univ Penn, Perelman Sch Med, Dept Orthoped Surg, Philadelphia, PA 19104 USA

[3] Univ Penn, Perelman Sch Med, Ctr Res FOP & Related Disorders, Philadelphia, PA 19104 USA

[4] Howard Hughes Med Inst, Bethesda, MD 21205 USA

[5] Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY | 2017年 / 9卷 / 11期

基金：

美国国家卫生研究院;

关键词：

GROWTH-FACTOR-BETA; BONE MORPHOGENETIC PROTEIN; SMOOTH-MUSCLE-CELLS; CAMURATI-ENGELMANN-DISEASE; VAN-BUCHEM-DISEASE; MEDIAL EDGE EPITHELIUM; TRANSFORMING GROWTH-FACTOR-BETA-1 EXPRESSION; HEREDITARY HEMORRHAGIC TELANGIECTASIA; HYPEROSTOSIS CORTICALIS GENERALISATA; PROGRESSIVE DIAPHYSEAL DYSPLASIA;

D O I：

10.1101/cshperspect.a022269

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：41

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