| Autor: |
Kwong, Ernest Man Lok, Ho, Jeff Cheuk Hin, Lau, Marco Chi Chung, You, May-Su, Jiang, Yun-Jin, Tse, William Ka Fai |
| Zdroj: |
American Journal of Pathology; February 2018, Vol. 188 Issue: 2 p336-342, 7p |
| Abstrakt: |
Treacher Collins syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. Recently, the authors' group unfolded the pathogenesis of polr1cType 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1cplays a role in regulating their expression. In this study, the authors aimed to identify the functional time window of polr1cin TCS by the use of photo-morpholino to restore the polr1cexpression at different time points. Results suggested that the restoration of polr1cat 8 hours after fertilization could rescue the TCS facial malformation phenotype by correcting the neural crest cell expression, reducing the cell death, and normalizing the p53 mRNA expression level in the rescued morphants. However, such recovery could not be reproduced if the polr1cis restored after 30 hours after fertilization. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
