Functional analysis of 6 variations in <i>FOXL2</i>
The double missense variant does not exert a superimposed inhibitory effect on gene expression. Despite differences in subcellular localization, all mutant proteins produced by these variants likely interfere with downstream gene expression through a shared pathway. Furthermore, mutant <i>FOXL2</i> proteins may disrupt ovarian development via multiple pathways, extending beyond their impact on <i>StAR</i> gene expression.
Authors
- Ningdong Li
- Wen Liu (ORCID: https://orcid.org/0000-0002-1701-4009)
- Yuan Wang (ORCID: https://orcid.org/0000-0001-9350-4061)
- Qian Wu (ORCID: https://orcid.org/0000-0002-3986-6042)
- Yunwei Fan
- Yan-yang Zhou (ORCID: https://orcid.org/0000-0002-0424-8885)
- Wenhong Cao
Institutions
- Shanghai Jiao Tong University (CN)
- Capital Medical University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Shanghai First People's Hospital (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- SAGE Open Medicine
- Published
- 2025-03-29
- DOI
- https://doi.org/10.1177/20503121251329287
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00