Investigating how a specific gene mutation affects facial development in Penttinen syndrome
Official title: Understanding the role of PDGFRb signaling in Penttinen syndrome craniofacial development
Funded at University of Oklahoma Hlth Sciences Ctr · NIH-10900037 · Data updated 2026-11-12
This study is looking at how a specific gene called PDGFRβ affects facial features in people with Penttinen syndrome, using mice that have a similar genetic change, to help find new ways to treat the condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Oklahoma Hlth Sciences Ctr NIH-funded |
| Lab location | 1 site (Oklahoma City, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $35,738 |
| NIH project number | 1F31DE033289-01A1 |
| Project ID | NIH-10900037 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Penttinen syndrome or those exhibiting similar craniofacial abnormalities.
✕Less likely to help
Patients without the V665A mutation in the PDGFRβ gene or those with different craniofacial syndromes may not benefit from this research.
What this research studies
This research focuses on understanding the role of the PDGFRβ gene in the development of craniofacial features associated with Penttinen syndrome, a rare genetic condition. By using a mouse model that mimics the human mutation, researchers aim to uncover how this mutation leads to abnormal facial development. The study will explore the signaling pathways activated by the PDGFRβ mutation and how they contribute to the craniofacial defects observed in affected individuals. This research could provide insights into potential therapeutic targets for managing the condition.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for patients with Penttinen syndrome.
How similar studies have gone: While research on PDGFRβ signaling is ongoing, this specific investigation into Penttinen syndrome is novel and has not been extensively studied before.
Where this research is happening
-
University of Oklahoma Hlth Sciences Ctr
Oklahoma City, United States Active
Researchers
- Principal investigator: Kim, Jang Hoon — University of Oklahoma Hlth Sciences Ctr
- Study coordinator: Kim, Jang Hoon
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.