What is it about?
Job syndrome is a rare genetic disorder caused by STAT3 mutations and primarily characterized by immune dysfunction along with comorbid skeleton developmental abnormalities including reduced bone formation, recurrent fracture of long bones and scoliosis. So far there is no definitive cure for the skeletal defects in Job syndrome and treatments are limited to management of clinical symptoms only. Here we have investigated the molecular mechanism whereby Stat3 regulates skeletal development and bone formation.
Photo by Danielle MacInnes on Unsplash
Why is it important?
Understanding the cell of origin and molecular mechanisms underlying rare genetic diseases provide invaluable insights into human biology and pathology of not only rare genetic diseases, but also related common disorders.
Read the Original
This page is a summary of: Stat3
loss in mesenchymal progenitors causes Job syndrome–like skeletal defects by reducing Wnt/β-catenin signaling, Proceedings of the National Academy of Sciences, June 2021, Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.2020100118.
You can read the full text:
The following have contributed to this page