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Nucleoporin107 mediates female sexual differentiation via Dsx

We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries. Modeling of the human mutation in Drosophila or specific knockdown of Nup107 in the gonadal soma resulted in ovari...

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Detalles Bibliográficos
Autores principales: Shore, Tikva, Levi, Tgst, Kalifa, Rachel, Dreifuss, Amatzia, Rekler, Dina, Weinberg-Shukron, Ariella, Nevo, Yuval, Bialistoky, Tzofia, Moyal, Victoria, Gold, Merav Yaffa, Leebhoff, Shira, Zangen, David, Deshpande, Girish, Gerlitz, Offer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8975549/
https://www.ncbi.nlm.nih.gov/pubmed/35311642
http://dx.doi.org/10.7554/eLife.72632