[HTML][HTML] Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection

Y Xue, X Cheng, Y Xiong, K Li - Frontiers in Endocrinology, 2022 - frontiersin.org
… in human fertilization failure in infertile patients as high … Recent advances in molecular
genetics have drastically … Zona pellucida (ZP) is an extracellular glycoprotein matrix that …

A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse

BJ Houston, DF Conrad, MK O'Bryan - Human genetics, 2021 - Springer
Molecular genetics of male infertility … the outermost layer of the oocyte, the zona pellucida
(Stauss et al. 1995). … acrosome reaction to digest the zona pellucida and initiate fertilization, …

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… - … Reproduction and Genetics, 2020 - Springer
… In mammals, the zona pellucida (ZP) is an extracellular … mutations in ZP genes are closely
related to female infertility (… −/− mice were not even enveloped by a zona pellucida and also …

The power of mouse genetics to study spermatogenesis

AN Yatsenko, N Iwamori, T Iwamori… - Journal of …, 2010 - Wiley Online Library
… Thus, we anticipate that future genetic investigations will focus on infertile men with a … to
penetrate the zona pellucida. Further studies of mutant Zpbp2 mice demonstrated that aberrant …

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… - … and Genetics, 2022 - Springer
… In mice, female mice lacking either ZP2 or ZP3 are unable to form a … Mutations in the
ZP2 gene and the ZP3 gene could also affect the zona pellucida and cause infertility, not only …

[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… - … of Human Genetics, 2017 - cell.com
… and lacked the zona pellucida (ZP). ZP3 is a major component of the ZP filament. When …
It has been demonstrated that female Zp3-deficient mice are completely infertile. Even though …

Zona pellucida proteins, fibrils, and matrix

ES Litscher, PM Wassarman - Annual Review of Biochemistry, 2020 - annualreviews.org
mice that are homozygous null for either ZP2 (ZP2 −/− ) or ZP3 (ZP3 −/− ) produce eggs that
lack a ZP and are infertile due … Many ZPD proteins are present in ECMs, and mutations in the …

Male infertility caused by spermiogenic defects: lessons from gene knockouts

W Yan - Molecular and cellular endocrinology, 2009 - Elsevier
… released to dissolve zona pellucida proteins during fertilization. … Male mice lacking SPAG6
are infertile because their sperm … sperm despite the fact that mutant sperm are misshapen and/…

[HTML][HTML] Mouse models in male fertility research

D Jamsai, MK O'bryan - Asian journal of andrology, 2011 - ncbi.nlm.nih.gov
… approach to identify infertility causing mutations is to conduct … Although recent advances in
molecular biology and the … the ability to bind the zona pellucida of the oocyte and undergo the …

ACROSIN deficiency causes total fertilization failure in humans by preventing the sperm from penetrating the zona pellucida

R Hua, R Xue, Y Liu, Y Li, X Sha, K Li, Y Gao… - Human …, 2023 - academic.oup.com
… In conclusion, our study provides the first direct evidence clarifying that biallelic mutations
in ACR cause male infertility with TFF in humans. ICSI without AOA can effectively bypass this …