18 Result(s)

Article

Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure

Abnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are undergoing IVF/ICSI attempts. Although many genetic factors responsib...

Zhiqi Ye, Da Li, **angli Niu, Aimin Yang… in Journal of Assisted Reproduction and Genet… (2024)

Article

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

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 DNA double-strand brea...

Zhiqi Pan, Weijie Wang, Ling Wu, Zhongyuan Yao, Wen**g Wang, Yao Chen… in Human Genetics (2024)

Article

Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects

Oocyte maturation defects are major phenotypes resulting in female infertility. Although many genetic factors have been found to be responsible for these phenotypes, the underlying pathogenic genes and variant...

Huizhen Fan, Zhou Zhou, Wei Zheng, Yichun Guan, Qingxia Meng… in Human Genetics (2023)

Article

YBX2-dependent stabilization of oocyte mRNA through a reversible sponge-like cortical partition

Zhihua Zhang, Ruyi Liu, Hongbin Zhou, Yuxi Luo, Jian Mu, **g Fu… in Cell Research (2023)

Article

ADGB variants cause asthenozoospermia and male infertility

Asthenozoospermia is one of the main factors leading to male infertility, but the genetic mechanisms have not been fully elucidated. Variants in the androglobin (ADGB) gene were identified in an infertile male c...

Ronggui Qu, Zhihua Zhang, Ling Wu, Qun Li, Jian Mu, Lin Zhao, Zheng Yan… in Human Genetics (2023)

Article

A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility

“Zygotic cleavage failure” is an embryonic phenotype that causes female infertility and failure of in vitro fertilization and/or intracytoplasmic sperm injection. We aimed to identify pathogenic variants in a ...

Ruyi Liu, Yifan Zhou, Qiaoli Li… in Journal of Assisted Reproduction and Genet… (2021)

Article

A novel splicing variant in DNAH8 causes asthenozoospermia

To identify the genetic factors responsible for asthenozoospermia, which is a major cause of male infertility characterized by immotile and malformed spermatozoa.

Zhou Zhou, **aoyan Mao, Biaobang Chen… in Journal of Assisted Reproduction and Genet… (2021)

Article

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

We aimed to identify pathogenic variants in two infertile sisters in a family with a thin zona pellucida (ZP) phenotype.

Yiming Sun, Yang Zeng, Hua Chen, Zhou Zhou… in Journal of Assisted Reproduction and Genet… (2021)

Article

Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome

To screen novel mutations in LHCGR responsible for empty follicle syndrome and explore the pathological mechanism of mutations.

Zhihua Zhang, Ling Wu, Feiyang Diao… in Journal of Assisted Reproduction and Genet… (2020)

Article

Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations

We aimed to identify novel variants in TUBB8 and corresponding new abnormal phenotypes in oocytes/fertilization/ embryonic development responsible for female infertility.

Lin Zhao, Yichun Guan, Wen**g Wang… in Journal of Assisted Reproduction and Genet… (2020)

Article

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations

The present study was intended to identify genetic causes of infertile patients with recurrent failure of in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) attempts.

**g Lin, Hua Xu, Biaobang Chen… in Journal of Assisted Reproduction and Genet… (2020)

Article

Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation

The human zona pellucida (ZP) is an extracellular glycoprotein matrix composed of ZP1, ZP2, ZP3, and ZP4 surrounding the oocyte, and it plays an important role in sperm–egg interactions during fertilization. S...

Zhou Zhou, Caixia Ni, Ling Wu, Biaobang Chen, Yao Xu, Zhihua Zhang… in Human Genetics (2019)