Cargando…
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mitochondrial ribosome can cause human disease, including, but not limited to, cardiomyopathy, hypoglycaemia, neurological dysfunction, sensorineural hearing loss and premat...
Autores principales: | Kline, Brianna L., Jaillard, Sylvie, Bell, Katrina M., Bakhshalizadeh, Shabnam, Robevska, Gorjana, van den Bergen, Jocelyn, Dulon, Jérôme, Ayers, Katie L., Christodoulou, John, Tchan, Michel C., Touraine, Philippe, Sinclair, Andrew H., Tucker, Elena J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690861/ https://www.ncbi.nlm.nih.gov/pubmed/36421788 http://dx.doi.org/10.3390/genes13112113 |
Ejemplares similares
-
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency
por: Tucker, Elena J., et al.
Publicado: (2022) -
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
por: Bakhshalizadeh, Shabnam, et al.
Publicado: (2023) -
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights
por: Tucker, Elena J, et al.
Publicado: (2022) -
Poor Compliance to Hormone Therapy and Decreased Bone Mineral Density in Women with Premature Ovarian Insufficiency
por: Bachelot, Anne, et al.
Publicado: (2016) -
NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients
por: Knarston, Ingrid M., et al.
Publicado: (2018)