Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility

X Wang, R Zhou, X Lu, S Dai, M Liu, C Jiang… - Clinical …, 2023 - Wiley Online Library
Oocyte maturation arrest, fertilization failure, and early embryonic arrest are important
causes of female infertility, whereas the genetic events that contribute to these processes …

Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility

Z Pan, W Wang, L Wu, Z Yao, W Wang, Y Chen, H Gu… - Human Genetics, 2024 - Springer
Preimplantation embryonic arrest is an important pathogenesis of female infertility, but little
is known about the genetic factors behind this phenotype. MEI4 is an essential protein for …

人类卵母细胞减数分裂的生理和病理机制

周舟, 桑庆, 王磊 - 遗传, 2023 - chinagene.cn
正常的卵子发生是人类成功繁育后代的关键步骤. 女性胚胎发育时期, 原始生殖细胞从有丝分裂
转变为减数分裂, 经过同源染色体配对和重组后, 减数分裂被阻滞在减数第一次分裂前期的双线 …

Female infertility from oocyte maturation arrest: assembling the genetic puzzle

X Ding, JC Schimenti - EMBO Molecular Medicine, 2023 - embopress.org
Assisted reproduction procedures often encounter an issue called oocyte maturation arrest
(OMA), which is manifested as failed IVF/ICSI attempts using oocytes from some infertile …

Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage

O Okutman, AS Gürbüz, U Büyük, E Real… - Journal of Assisted …, 2024 - Springer
Women undergoing controlled ovarian hyperstimulation prior to in vitro fertilization (IVF) are
treated using various protocols to induce multiple follicular growths. Complete failure of all …

Identification of novel compound heterozygous ZFP36L2 variants implicated in oocyte maturation defects and female infertility

X Wan, H Hu, J Sun, F Meng, F Gong, G Lin… - Journal of Assisted …, 2024 - Springer
Purpose To explore the pathogenesis of oocyte maturation defects. Methods Whole exome
sequencing was conducted to identify potential variants, which were then confirmed within …