Exploring how gene mutations in cilia affect important proteins for cell growth and development
Understanding how ciliary gene mutations affect the processing and activity of Gli2 and Gli3 transcription factors
This study is looking at how changes in certain genes related to tiny hair-like structures in our cells can affect important proteins that help control cell growth and development, which could lead to new insights and treatments for people with ciliopathies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10833102 on NIH RePORTER |
What this research studies
This research investigates the role of ciliary gene mutations in the processing and activity of Gli2 and Gli3 transcription factors, which are crucial for cell growth and differentiation. By examining how these mutations impact the signaling pathways that regulate embryonic development and various cellular functions, the study aims to uncover the underlying mechanisms of ciliopathies, a group of disorders caused by ciliary dysfunction. The research employs advanced molecular biology techniques to analyze the phosphorylation and degradation processes of these transcription factors in response to signaling molecules. Patients may benefit from a better understanding of their conditions and potential new therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with congenital abnormalities or ciliopathies that may be related to ciliary gene mutations.
Not a fit: Patients without any known genetic mutations affecting ciliary function or those with unrelated conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients with developmental abnormalities linked to ciliary dysfunction.
How similar studies have performed: Previous research has shown promising results in understanding the role of cilia in various diseases, indicating that this approach could yield valuable insights.
Where this research is happening
New York, United States
- Weill Medical Coll of Cornell Univ — New York, United States (Active)
Researchers
- Principal investigator: Wang, Baolin — Weill Medical Coll of Cornell Univ
- Study coordinator: Wang, Baolin
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 below.