Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure
This study sheds light on the underlying molecular mechanisms of OF, providing novel associations for six genes and OF-related infertility, setting a foundation for further biomarker development, and improving precision medicine in infertility.
Authors
- Patricia Díaz-Gimeno (ORCID: https://orcid.org/0000-0003-0031-7545)
- Ismael Henarejos-Castillo (ORCID: https://orcid.org/0000-0002-6190-9029)
- F. Sanz (ORCID: https://orcid.org/0000-0002-2532-0487)
- Nuria Paricio (ORCID: https://orcid.org/0000-0001-7193-2532)
- Cristina Solana‐Manrique (ORCID: https://orcid.org/0000-0001-5148-8796)
- J. Remohı́
- Ignacio Medina (ORCID: https://orcid.org/0000-0003-0095-670X)
- Patricia Sebastian-Leon (ORCID: https://orcid.org/0000-0001-7573-5587)
Institutions
- Universitat de València (ES)
- University of Cambridge (GB)
- Instituto de Investigación Sanitaria La Fe (ES)
Publication Details
- Journal
- Reproductive Biology and Endocrinology
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1186/s12958-024-01325-4
- Citations
- 5
- Primary Topic
- Reproductive Biology and Fertility
- Type
- article
- Field-Weighted Citation Impact
- 2.71
Funders
- American Concrete Institute Foundation
- European Commission
- Universidad de Navarra
- Ministerio de Ciencia e Innovación
- Instituto de Salud Carlos III