Understanding how a gene affects tooth enamel formation and defects
The molecular mechanism of amelogenin exon4 alternative splicing and its association to amelogenesis imperfecta
This study is looking at how changes in a specific gene can affect the way your teeth are formed, especially for people with Amelogenesis Imperfecta, a condition that causes enamel problems, to help us understand why these issues happen and how they can be treated.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-11071014 on NIH RePORTER |
What this research studies
This research investigates the role of the amelogenin gene in the formation of dental enamel, focusing on how mutations in this gene can lead to a hereditary condition called Amelogenesis Imperfecta. The study examines the process of alternative splicing, which allows the gene to produce different versions of itself, and how this process is disrupted by specific mutations. By analyzing the influence of certain proteins on this splicing process, the research aims to uncover the molecular mechanisms behind enamel defects. This could provide insights into the genetic basis of enamel-related dental issues.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with X-linked Amelogenesis Imperfecta or those with a family history of hereditary enamel defects.
Not a fit: Patients without genetic predispositions to enamel defects or those with enamel issues caused by non-genetic factors may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for patients with enamel defects, improving dental health outcomes.
How similar studies have performed: Previous research has shown promising results in understanding the genetic mechanisms of Amelogenesis Imperfecta, indicating that this approach has potential for success.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Shemirani, Rozana — University of California, San Francisco
- Study coordinator: Shemirani, Rozana
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.