Abstract TGF-β 1–3 are unique multi-functional growth factors that are only expressed in
mammals, and mainly secreted and stored as a latent complex in the extracellular matrix …

Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by
Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic …

The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now
contains 771 entries associated with 552 genes reflecting advances in molecular …

The application of massively parallel sequencing technology to the field of skeletal disorders
has boosted the discovery of the underlying genetic defect for many of these diseases. It has …

The purpose of the nosology is to serve as a “master” list of the genetic disorders of the
skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions …

More than 20 years ago, Wood et al.(Curr Anthropol 33: 343–370, 1992) published “The
Osteological Paradox: Problems of Inferring Prehistoric Health from Skeletal Samples,” in …

SOX9 is a transcriptional activator required for chondrogenesis, and SOX5 and SOX6 are
closely related DNA-binding proteins that critically enhance its function. We use here …

Osteoporosis is a common disorder, affecting hundreds of millions of people worldwide, and
characterized by decreased bone mineral density and increased fracture risk. Known …

Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in
skeletal dysplasias, such as thanatophoric dysplasia and achondroplasia (ACH). The lack of …

In the last 10 years, the primary cilia machinery has been implicated in more than a dozen
disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and …