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 …

Signaling pathway intervention in premature ovarian failure

X Bai, S Wang - Frontiers in Medicine, 2022 - frontiersin.org
Premature ovarian failure (POF) is a multifactorial disease that refers to the occurrence of
secondary amenorrhea, estrogen decrease, and gonadotropin increase in women under the …

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 …

Roles of the notch signaling pathway in ovarian functioning

S Guo, S Quan, S Zou - Reproductive Sciences, 2021 - Springer
The Notch signaling pathway regulates cell invasion, adhesion, proliferation, apoptosis, and
differentiation via cell-to-cell interactions and plays important physiological roles in the …

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

M Zhao, F Feng, C Chu, W Yue, L Li - Journal of ovarian research, 2019 - Springer
Background To dissect the genetic causes underlying diminished ovarian reserve (DOR)
and premature ovarian insufficiency (POI) within a family. Methods Whole-exome …

BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency

L Renault, LC Patiño, F Magnin… - The Journal of …, 2020 - academic.oup.com
Context Primary ovarian insufficiency (POI) is a frequently occurring disorder affecting
approximately 1% of women under 40 years of age. POI, which is characterized by the …

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 …

Onco-fertility and personalized testing for potential for loss of ovarian reserve in patients undergoing chemotherapy: proposed next steps for development of genetic …

B Sun, J Yeh - Fertility Research and Practice, 2021 - Springer
Women of reproductive age undergoing chemotherapy face the risk of irreversible ovarian
insufficiency. Current methods of ovarian reserve testing do not accurately predict future …

Whole-Genome Re-sequencing and Transcriptome Reveal Candidate Genes and Pathways Associated with Hybrid Sterility in Hermaphroditic Argopecten Scallops

T Yu, J Ning, F Wang, G Liu, Q Wang, X Xu… - Marine …, 2023 - Springer
The interspecific hybrid scallops generated from the hermaphroditic bay scallops
(Argopecten irradians) and Peruvian scallops (Argopecten purpuratus) showed significant …

Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing

KM Jiménez, A Morel, L Parada-Niño… - Pregnancy …, 2020 - Elsevier
Background Preeclampsia (PE) is a frequently occurring multisystemic disease affecting~
5% of pregnancies. PE patients may develop HELLP syndrome (haemolysis, elevated liver …