Osteoarthritis and rheumatoid arthritis are common cartilage and joint diseases that globally
affect more than 200 million and 20 million people, respectively. Several transcription factors …

The Hedgehog (HH) signalling pathway is one of the major pathways controlling cell
differentiation and proliferation during human development. This pathway is complex, with …

The pituitary is an organ of dual provenance: the anterior lobe is epithelial in origin, whereas
the posterior lobe derives from the neural ectoderm. The pituitary gland is a pivotal element …

The hedgehog (Hh) family consists of numerous signaling mediators that play important
roles at various stages of development. Thus, the Hh pathway is essential for bone tissue …

A novel heterozygous IVS11-2A> C (c. 1957-2A> C) mutation in the GLI2 gene is reported.
There was an extremely distinct phenotypical expression in two siblings and their father. The …

Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is
prone to misdiagnosis. We report one patient who presented with a 10-year history of …

Hedgehog signaling plays pivotal roles in embryonic development, adult homeostasis and
tumorigenesis. However, its engagement in the pituitary gland has been long …

Background Skeletal deformity is characterized by an abnormal anatomical structure of bone
and cartilage. In our previous studies, we have found that a substantial proportion of patients …

Diabetes is a worldwide health problem caused by the loss or dysfunction of the insulin-
secreting β-cells in the pancreas. Unelucidated forms of monogenic diabetes, arising from …

In order to understand and eventually cure genetic disease, it is essential to understand
which transcriptional and cellular mechanisms lead to the symptoms experienced by …