Publications by authors named "Thomas J Egeland"
Article Synopsis
- Prune belly syndrome (PBS), or Eagle-Barret syndrome, is a rare condition mostly affecting males, characterized by urinary tract dilation, abdominal muscle deficiency, and undescended testes.
- Researchers found a genetic link to PBS through a variant in the PIEZO1 gene, which plays a role in how cells respond to mechanical pressure.
- Functional analysis showed that the PIEZO1 mutation leads to loss-of-function in certain channel activities, but the issue can potentially be fixed using Yoda1, a compound that activates PIEZO1, suggesting new treatment avenues for PBS.
