A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-021-02136-x
Abstract: To identify a pathogenic gene mutation in a female infertility proband characterized by empty follicle syndrome (EFS) and explore the genetic cause of EFS. Whole exome sequencing (WES) was performed to identify the candidate pathogenic… read more here.
Keywords: zp1; empty follicle; mutation; zona pellucida ... See more keywords
Mutant Zp1 impedes incorporation of ZP3 and ZP4 in the zona pellucida, resulting in zona absence and female infertility in ratsâ€
Sign Up to like & getrecommendations! Published in 2021 at "Biology of Reproduction"
DOI: 10.1093/biolre/ioab025
Abstract: Abstract The zona pellucida (ZP) plays vital roles in reproductive processes including oogenesis, fertilization, and preimplantation development. Both human and rat ZP consist of four glycoproteins, called ZP1, ZP2, ZP3, and ZP4. Our previous research… read more here.
Keywords: infertility; zp1; zp3 zp4; zona pellucida ... See more keywords
A recurrent ZP1 variant is responsible for Oocyte Maturation Defect with degenerated oocytes in infertile females.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical genetics"
DOI: 10.1111/cge.14144
Abstract: A female factor is present in approximately 70% of couple infertility, often due to ovulatory disorders. In oocyte maturation defect (OMD), affected patients have a primary infertility with normal menstrual cycles but produce no oocyte,… read more here.
Keywords: zp1; zp1 variant; maturation defect; oocyte maturation ... See more keywords