Publications by authors named "Damla Firat"
Article Synopsis
- Activating mutations in the PTH/PTHrP receptor lead to Jansen's metaphyseal chondrodysplasia (JMC), characterized by growth plate issues, short stature, and high calcium levels not dependent on PTH.
- Transgenic mouse models previously created for JMC did not accurately represent the disease, prompting the development of "humanized" mice that express the human mutation through the appropriate mouse promoter in all target tissues.
- These new JMC mice exhibited significant growth plate abnormalities, reduced serum PTH and P1NP levels, and may serve as a better model for studying JMC and exploring treatment possibilities.
