2022 Fiscal Year Research-status Report
Glutathione modulates the extracellular matrix organization of craniofacial neural crest cells in Type 3 POLR1C Treacher Collins syndrome
| Project/Area Number |
22K07025
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| Research Institution | Kyushu University |
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Principal Investigator |
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| Project Period (FY) |
2022-04-01 – 2025-03-31
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| Keywords | Anti-oxidant / Facial malformation / Zebrafish |
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| Outline of Annual Research Achievements |
The project applied the polr1c zebrafish mutant to study the Tracher Collins syndrome (TCS). Excessive reactive oxidative species were found in the mutant, and we have screened several anti-oxidants for potential treatment. In the past year, we have customized the facial micro-CT analysis in zebrafish for bone mineral density measurement (Liao et al. 2022). Besides, we analyzed the genotype-phenotype correlations in TCS (Ulhaq et al. 2022) and Nager syndrome (Ulhaq et al. In Press). Furthermore, we applied the developed methodologies to study the motor deficits in zebrafish (Ulhaq et al. 2023). Lastly, a review paper on deubiquitinates has been published (Liu et al. 2022).
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| Current Status of Research Progress |
Current Status of Research Progress
1: Research has progressed more than it was originally planned.
Reason
We have explored several different areas about the TCS, from the micro-CT analysis, to the systematic review. Five SCI papers have been published in the past year. The planned biological experiments are on-going smoothly, including the dosage selection for resecure experiment. We are expecting to have some fruitful result by the end of the project.
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| Strategy for Future Research Activity |
The research will be performed as scheduled. Briefly, resecure experiments will be done with the imaging, real-time qPCR, and other biochemistry assays. RNA-sequencing on the enriched neural crest cells will be performed as well.
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Research Products
(7 results)
