Understanding how a gene affects tooth enamel formation and defects
Official title: The molecular mechanism of amelogenin exon4 alternative splicing and its association to amelogenesis imperfecta
Funded at University of California, San Francisco · NIH-11071014 · Data updated 2026-11-12
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 start | September 27, 2024 |
| Project end | July 26, 2027 |
| Funding year | 2024 |
| Award (this year) | $48,003 |
| NIH project number | 1F31DE034641-01 |
| Project ID | NIH-11071014 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with X-linked Amelogenesis Imperfecta or those with a family history of hereditary enamel defects.
✕Less likely to help
Patients without genetic predispositions to enamel defects or those with enamel issues caused by non-genetic factors may not benefit from this research.
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.
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 gone: 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
-
University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Shemirani, Rozana — University of California, San Francisco
- Study coordinator: Shemirani, Rozana
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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.