期刊
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
卷 24, 期 -, 页码 225-253出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-120922-094107
关键词
TGF-beta; BMP; skeletal dysplasia; short stature; tall stature
This article discusses the importance of the TGF-beta and BMP signaling pathways in bone development and skeletal health, as well as the genetic variants associated with skeletal dysplasia. The review provides a detailed description of the clinical features of patients, genetic findings, and the molecular mechanisms underlying the disease. The advances in pharmacological treatment targeting TGF-beta are also discussed.
The transforming growth factor beta (TGF-beta) and bone morphogenetic protein (BMP) signaling pathways play a pivotal role in bone development and skeletal health. More than 30 different types of skeletal dysplasia are now known to be caused by pathogenic variants in genes that belong to the TGF-beta superfamily and/or regulate TGF-beta/BMP bioavailability. This review describes the latest advances in skeletal dysplasia that is due to impaired TGF-beta/BMP signaling and results in short stature (acromelic dysplasia and cardiospondylocarpofacial syndrome) or tall stature (Marfan syndrome). We thoroughly describe the clinical features of the patients, the underlying genetic findings, and the pathomolecular mechanisms leading to disease, which have been investigated mainly using patient-derived skin fibroblasts and mouse models. Although no pharmacological treatment is yet available for skeletal dysplasia due to impaired TGF-beta/BMP signaling, in recent years advances in the use of drugs targeting TGF-beta have been made, and we also discuss these advances.
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