Genetics of ovarian insufficiency and defects of folliculogenesis

MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

[HTML][HTML] Ovarian aging: mechanisms and intervention strategies

Z Zhu, W Xu, L Liu - Medical Review, 2023 - degruyter.com
Ovarian reserve is essential for fertility and influences healthy aging in women. Advanced
maternal age correlates with the progressive loss of both the quantity and quality of oocytes …

Genetics of primary ovarian insufficiency in the next-generation sequencing era

MM França, BB Mendonca - Journal of the Endocrine Society, 2020 - academic.oup.com
Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-
stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age …

Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing

EC Vogt, E Bratland, S Berland, R Berentsen… - Human …, 2024 - academic.oup.com
STUDY QUESTION Is it possible to find the cause of primary ovarian insufficiency (POI) in
more women by extensive screening? SUMMARY ANSWER Adding next generation …

[HTML][HTML] DNA double-strand break genetic variants in patients with premature ovarian insufficiency

X Ding, X Gong, Y Fan, J Cao, J Zhao, Y Zhang… - Journal of Ovarian …, 2023 - Springer
Premature ovarian insufficiency (POI) is a clinically heterogeneous disease that may
seriously affect the physical and mental health of women of reproductive age. POI primarily …

[HTML][HTML] Alterations in synaptonemal complex coding genes and human infertility

F Zhang, M Liu, J Gao - International journal of biological sciences, 2022 - ncbi.nlm.nih.gov
About 10% of reproductive-aged couples suffer from infertility. However, the genetic causes
of human infertility cases are largely unknown. Meiosis produces haploid gametes for …

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

A Turkyilmaz, C Alavanda, EA Ates, BB Geckinli… - Journal of Assisted …, 2022 - Springer
Purpose Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by
the cessation of menstrual cycles before the age of 40 years due to the depletion or …

[HTML][HTML] Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants

W Luo, H Ke, S Tang, X Jiao, Z Li, S Zhao… - Journal of Ovarian …, 2023 - Springer
Background Premature ovarian insufficiency refers to the loss of ovarian function before 40
years of age. The etiology is heterogeneous, and genetic factors account for 20–25% of …

[HTML][HTML] Selected genetic factors associated with primary ovarian insufficiency

M Chen, H Jiang, C Zhang - International Journal of Molecular Sciences, 2023 - mdpi.com
Primary ovarian insufficiency (POI) is a heterogeneous disease resulting from non-functional
ovaries in women before the age of 40. It is characterized by primary amenorrhea or …

Eif4enif1 haploinsufficiency disrupts oocyte mitochondrial dynamics and leads to subfertility

Y Ding, Z He, Y Sha, K Kee, L Li - Development, 2023 - journals.biologists.com
Infertility affects couples worldwide. Premature ovarian insufficiency (POI) refers to loss of
ovarian function before 40 years of age and is a contributing factor to infertility. Several case …