ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure
Purpose: Primary ovarian insufficiency (POI) is a frequent disorder that affects ~1% of women under 40 years of age. POI, which is characterized by the premature depletion of ovarian follicles and elevated plasma levels of follicle-stimulating hormone (FSH), leads to infertility. Although various et...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2019
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/24148
- Acceso en línea:
- https://doi.org/10.1038/s41436-018-0287-y
https://repository.urosario.edu.co/handle/10336/24148
- Palabra clave:
- Autophagy related protein 7
Atg7 protein, human
Atg9a protein, human
Autophagy related protein
Autophagy related protein 7
Follitropin
Membrane protein
Vesicular transport protein
Article
Atg7 gene
Atg9a gene
Autophagosome
Autophagy
Computer model
Controlled study
Female
Gene
Gene identification
Gene location
Gene sequence
Genetic variability
Haploinsufficiency
Human
Human cell
Loss of function mutation
Major clinical study
Mutational analysis
Ovarian reserve
Ovary insufficiency
Pathogenesis
Whole exome sequencing
Adult
Autophagy
Early menopause
Genetic predisposition
Genetics
Loss of function mutation
Pathology
Premature ovarian failure
Adult
Autophagy
Autophagy-related protein 7
Autophagy-related proteins
Female
Follicle stimulating hormone
Genetic predisposition to disease
Humans
Loss of function mutation
Membrane proteins
Primary ovarian insufficiency
Vesicular transport proteins
Whole exome sequencing
Autophagy
Infertility
Ovarian reserve
premature
Menopause
- Rights
- License
- Abierto (Texto Completo)