In:
Annual Review of Genomics and Human Genetics, Annual Reviews, Vol. 24, No. 1 ( 2023-08-25), p. 225-253
Abstract:
The transforming growth factor β (TGF-β) 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-β superfamily and/or regulate TGF-β/BMP bioavailability. This review describes the latest advances in skeletal dysplasia that is due to impaired TGF-β/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-β/BMP signaling, in recent years advances in the use of drugs targeting TGF-β have been made, and we also discuss these advances.
Type of Medium:
Online Resource
ISSN:
1527-8204
,
1545-293X
DOI:
10.1146/genom.2023.24.issue-1
DOI:
10.1146/annurev-genom-120922-094107
Language:
English
Publisher:
Annual Reviews
Publication Date:
2023
detail.hit.zdb_id:
2033916-1
SSG:
12
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