Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida

G Luo, L Zhu, Z Liu, X Yang, Q Xi, Z Li, J Duan… - Journal of Assisted …, 2020 - Springer
Purpose Mutations in the zona pellucida glycoprotein genes have been reported to be
associated with empty follicle syndrome (EFS) and abnormal zona pellucida (ZP). In this …

Novel mutations in ZP2 and ZP3 cause female infertility in three patients

W Jia, Q Xi, L Zhu, Y Luo, Z Li, M Hou, D Zhang… - Journal of Assisted …, 2022 - Springer
Purpose The aim of this study was to identify the disease-causing mutations found in three
infertile female patients who were diagnosed with abnormal zona pellucida (ZP) and empty …

[HTML][HTML] Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida

L Sun, K Tong, W Liu, Y Tian, D Liu, G Huang… - Reproductive BioMedicine …, 2023 - Elsevier
Research question Which genetic variants might explain the causes of empty follicle
syndrome (EFS) and abnormal zona pellucida (ZP) and affect the success of treatment with …

A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome

T Zou, Q Xi, Z Liu, Z Li, M Hou, L Zhu, L Jin… - Reproductive …, 2022 - Springer
ZP1 is a critical glycoprotein in the formation of the zona pellucida. It plays an indispensable
role in the maturation of oocytes. To identify the causative gene of empty follicle syndrome …

Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome

M Liu, Y Shen, X Zhang, X Wang, D Li… - Journal of Assisted …, 2020 - Springer
Purpose Empty follicle syndrome (EFS) refers to the inability to obtain mature oocytes after
appropriate ovarian stimulation during the process of in vitro fertilization (IVF). However, the …

A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome

J Wang, X Yang, X Sun, L Ma, Y Yin, G He… - Journal of Assisted …, 2021 - Springer
Purpose To identify a pathogenic gene mutation in a female infertility proband characterized
by empty follicle syndrome (EFS) and explore the genetic cause of EFS. Methods Whole …

A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation

D Zhang, L Zhu, Z Liu, X Ren, X Yang, D Li… - Journal of Assisted …, 2021 - Springer
Purpose To identify disease-causing genes involved in female infertility. Methods Whole-
exome sequencing and Sanger DNA sequencing were used to identify the mutations in …

[HTML][HTML] The critical role of ZP genes in female infertility characterized by empty follicle syndrome and oocyte degeneration

P Yang, T Chen, Y Liu, Z Hou, K Wu, Y Cao, J Zhang… - Fertility and sterility, 2021 - Elsevier
Objective To identify the major causative gene (s) of genuine empty follicle syndrome
(GEFS) characterized by oocyte degeneration. Design Genetic and functional studies …

[PDF][PDF] A recurrent missense mutation in ZP3 causes empty follicle syndrome and female infertility

T Chen, Y Bian, X Liu, S Zhao, K Wu, L Yan, M Li… - The American Journal of …, 2017 - cell.com
Empty follicle syndrome (EFS) is defined as the failure to aspirate oocytes from mature
ovarian follicles during in vitro fertilization. Except for some cases caused by …

Novel mutation in the ZP1 gene and clinical implications

P Yuan, R Li, D Li, L Zheng, S Ou, H Zhao… - Journal of assisted …, 2019 - Springer
Purpose Empty follicle syndrome (EFS) is a complex reproductive disorder characterized by
the repeated failure to aspirate oocytes from mature ovarian follicles during in vitro …