4.6 Article

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

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome

Zhiqiang Zhang et al.

Summary: A novel mutation in ZP3 associated with empty follicle syndrome was identified, leading to infertility in mice and impacting ZP formation. The study suggests that a loop structure in ZP3 plays a critical role in specifying the correct heterodimerization partner.

HUMAN MUTATION (2022)

Article Genetics & Heredity

Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women

Ling Wu et al.

Summary: Empty follicle syndrome (EFS) is a serious and complex reproductive complication for infertile women, with increasing evidence highlighting the genetic basis of EFS occurrence. Novel and reported mutations in the ZP1 gene were identified in individuals with EFS, expanding the mutational spectrum and providing insights into the biological functions of ZP1 and its role in assessing EFS disease.

CLINICAL GENETICS (2021)

Article Genetics & Heredity

A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility

Yiming Sun et al.

Summary: This study identified a novel pathogenic variant in ZP2 that may cause thin ZP and female infertility. The variant affects the assembly of ZP2-ZP3 dimers, and further experimental results confirmed this mechanism of action.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

Article Genetics & Heredity

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

Jing Wang et al.

Summary: A novel homozygous nonsense mutation in ZP1 was identified in a family with female infertility characterized by EFS. Bioinformatics analysis predicted the mutation to be pathogenic, resulting in a truncated ZP1 protein that is localized in the cytoplasm of degenerated oocyte. This study expands the genetic spectrum for EFS and helps justify the EFS diagnosis in patients.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

Article Genetics & Heredity

A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)

Qianhua Xu et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2020)

Article Biochemistry & Molecular Biology

Zona Pellucida Proteins, Fibrils, and Matrix

Eveline S. Litscher et al.

Annual Review of Biochemistry (2020)

Article Genetics & Heredity

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

Mohan Liu et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2020)

Article Cell Biology

Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human

Qiqi Cao et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2020)

Article Genetics & Heredity

Novel mutations inZP1andZP2cause primary infertility due to empty follicle syndrome and abnormal zona pellucida

Geng Luo et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2020)

Article Genetics & Heredity

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility

Can Dai et al.

GENETICS IN MEDICINE (2019)

Article Genetics & Heredity

Novel mutation in the ZP1 gene and clinical implications

Ping Yuan et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2019)

Article Obstetrics & Gynecology

Novel zona pellucida gene variants identified in patients with oocyte anomalies

Ping Yang et al.

FERTILITY AND STERILITY (2017)

Article Genetics & Heredity

Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility

Wenqiang Liu et al.

HUMAN GENETICS (2017)

Article Obstetrics & Gynecology

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

Liliana Catherine Patino et al.

HUMAN REPRODUCTION (2017)

Article Genetics & Heredity

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility

Tailai Chen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Reproductive Biology

Oocyte zona pellucida dysmorphology is associated with diminished in-vitro fertilization success

May-Tal Sauerbrun-Cutler et al.

JOURNAL OF OVARIAN RESEARCH (2015)

Article Medicine, General & Internal

Mutant ZP1 in Familial Infertility

Hua-Lin Huang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Review Cell Biology

Mammalian zona pellucida glycoproteins: structure and function during fertilization

Satish K. Gupta et al.

CELL AND TISSUE RESEARCH (2012)

Editorial Material Obstetrics & Gynecology

Sequence variations in human ZP genes as potential modifiers of zona pellucida architecture

Reeta-Maria Pokkyla et al.

FERTILITY AND STERILITY (2011)

Review Obstetrics & Gynecology

Predictive value of oocyte morphology in human IVF: a systematic review of the literature

Laura Rienzi et al.

HUMAN REPRODUCTION UPDATE (2011)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Obstetrics & Gynecology

Cracking the egg:: increased complexity in the zona pellucida

SJ Conner et al.

HUMAN REPRODUCTION (2005)