Article
Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
Human molecular genetics - 29 Sept 2020
Chen Qing, Ke Hanni, Luo Xuezhen, Wang Lingbo, Wu Yanhua, Tang Shuyan, Li Jinsong, Jin Li, Zhang Feng, Qin Yingying, Chen Xiaojun
Abstract excerpt
Losing of ovarian functions prior to natural menopause age causes female infertility and early menopause. Premature ovarian insufficiency (POI) is defined as the loss of ovarian activity before 40 years of age. Known genetic causes account for 25-30% of POI cases, demonstrating the high genetic h...
Topics
- Animals
- Cell Cycle Proteins
- DNA, Mitochondrial
- Female
- Follicle Stimulating Hormone
- Humans
- Infertility, Female
- Menopause
- Mice
- Mice, Knockout
- Mutation, Missense
- Pedigree
- Phenotype
- Pregnancy
- Primary Ovarian Insufficiency