Pleiotropic germline PTEN mutations influence gastrulation through dysregulated AKT activation
gastruloids and morphological reversal with AKT inhibitor treatment. Our data suggest a potential link between the mutant PTEN allele-specific early developmental alterations and the clinical outcomes of PHTS, and provide a platform for pathogenic mutation and drug screening.
Authors
- Masahiro Hitomi (ORCID: https://orcid.org/0000-0002-0937-6640)
- Juan Venegas (ORCID: https://orcid.org/0000-0002-0492-1777)
- Charis Eng (ORCID: https://orcid.org/0000-0002-3693-5145)
- Arda Durmaz (ORCID: https://orcid.org/0000-0001-8394-600X)
- Omer Enes Onur (ORCID: https://orcid.org/0000-0002-2805-8154)
- Shin Chung Kang
Institutions
- Cleveland Clinic (US)
- Cleveland Clinic Lerner College of Medicine (US)
- University School (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- npj Genomic Medicine
- Published
- 2026-04-28
- DOI
- https://doi.org/10.1038/s41525-026-00574-z
- Primary Topic
- PI3K/AKT/mTOR signaling in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ambrose Monell Foundation
- Cleveland Clinic