[HTML][HTML] Novel homozygous PADI6 variants in infertile females with early embryonic arrest

Y Xu, R Wang, Z Pang, Z Wei, L Sun, S Li… - Frontiers in Cell and …, 2022 - frontiersin.org
Early embryonic arrest denotes premature termination of development in pre-implantation
embryos, which is one of the major phenotypes of recurrent assisted reproduction failure …

[PDF][PDF] Mutations in PADI6 cause female infertility characterized by early embryonic arrest

Y Xu, Y Shi, J Fu, M Yu, R Feng, Q Sang… - The American Journal of …, 2016 - cell.com
Early embryonic arrest is one of the major causes of female infertility. However, because of
difficulties in phenotypic evaluation, genetic determinants of human early embryonic arrest …

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage

W Zheng, L Chen, J Dai, C Dai, J Guo, C Lu… - Journal of Assisted …, 2020 - Springer
Purpose To investigate the pathogenesis of the recurrent preimplantation embryonic arrest
characterized by direct cleavage. Methods Two affected individuals underwent time-lapse …

A novel homozygous mutation in the PADI6 gene causes early embryo arrest

X Wang, H Zhu, Y He, J Zeng, J Zhao, Q Xia, L Wu… - Reproductive …, 2022 - Springer
Background It has been proved that mutations in the PADI6 gene can cause early embryo
arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic …

Novel biallelic mutations in PADI6 in patients with early embryonic arrest

J Dong, J Fu, Z Yan, L Li, Y Qiu, Y Zeng, R Liu… - Journal of Human …, 2022 - nature.com
Peptidyl arginine deiminase, type VI (PADI6) is a member of the subcortical maternal
complex (SCMC), which plays vital roles in mammalian embryogenesis. Most mutations in …

Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest

W Zheng, H Hu, J Dai, S Zhang, Y Gu, C Dai… - Clinical …, 2021 - Wiley Online Library
The subcortical maternal complex (SCMC) is an oocyte‐to‐embryo‐specific maternal
functional module. Some variants of SCMC genes that contribute to preimplantation …

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest

X Wang, D Song, D Mykytenko, Y Kuang, Q Lv… - Reproductive …, 2018 - Elsevier
Successful human reproduction initiates from normal gamete formation, fertilization and
early embryonic development. Abnormalities in any of these steps will lead to infertility …

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development

J Liu, Z Tan, J He, T Jin, Y Han, L Hu… - Journal of Assisted …, 2021 - Springer
Purpose This study aims to identify genetic causes of female infertility associated with
recurrent failure of assisted reproductive technology (ART) characterized by embryonic …

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

JH Qian, NMP Nguyen, M Rezaei, B Huang… - European Journal of …, 2018 - nature.com
Recurrent hydatidiform moles (RHM) are aberrant human pregnancies characterized by
absence of, or abnormal, embryonic development, hydropic degeneration of chorionic villi …

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest

X Tong, J Jin, Z Hu, Y Zhang, HY Fan… - Human …, 2022 - Wiley Online Library
The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is
vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes …