Publications by authors named "Brenna L Stallings"
Article Synopsis
- Researchers created a mouse model using CRISPR/Cas9 to study the effects of a common PIK3R2 mutation linked to brain overgrowth syndromes like MPPH.
- The study found that the mutation leads to hyperactivation of the PI3K-AKT pathway, resulting in larger brain sizes and some cortical defects, paralleling symptoms seen in affected human patients.
- This mouse model helps deepen the understanding of the conditions caused by PIK3R2 mutations and could aid in developing effective treatments for those affected.
