Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice

SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …

A Capalbo, M Poli, A Riera-Escamilla… - Human reproduction …, 2021 - academic.oup.com
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

A genomics approach to females with infertility and recurrent pregnancy loss

S Maddirevula, K Awartani, S Coskun, LF AlNaim… - Human genetics, 2020 - Springer
Infertility affects 10% of reproductive-age women and is extremely heterogeneous in
etiology. The genetic contribution to female infertility is incompletely understood, and …

Zona pellucida genes and proteins: essential players in mammalian oogenesis and fertility

PM Wassarman, ES Litscher - Genes, 2021 - mdpi.com
All mammalian oocytes and eggs are surrounded by a relatively thick extracellular matrix
(ECM), the zona pellucida (ZP), that plays vital roles during oogenesis, fertilization, and …

Gene mutations impede oocyte maturation, fertilization, and early embryonic development

C Fei, L Zhou - Bioessays, 2022 - Wiley Online Library
Reproductive diseases are a long‐standing problem and have become more common in the
world. Currently, 15% of the world's population suffers from infertility, and half of them are …

New insights into the mammalian egg zona pellucida

C Moros-Nicolás, P Chevret… - International Journal of …, 2021 - mdpi.com
Mammalian oocytes are surrounded by an extracellular coat called the zona pellucida (ZP),
which, from an evolutionary point of view, is the most ancient of the coats that envelope …

ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage …

C Dai, Y Chen, L Hu, J Du, F Gong, J Dai… - Human …, 2019 - academic.oup.com
Empty follicle syndrome (EFS) is the complete failure to retrieve oocytes after ovarian
stimulation. Although LHCGR and ZP3 were identified as causative genes, it is still unclear …

[HTML][HTML] Molecular basis of egg coat cross-linking sheds light on ZP1-associated female infertility

K Nishimura, E Dioguardi, S Nishio, A Villa… - Nature …, 2019 - nature.com
Mammalian fertilisation begins when sperm interacts with the egg zona pellucida (ZP),
whose ZP1 subunit is important for fertility by covalently cross-linking ZP filaments into a …

Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida

G Luo, L Zhu, Z Liu, X Yang, Q Xi, Z Li, J Duan… - Journal of assisted …, 2020 - Springer
Purpose Mutations in the zona pellucida glycoprotein genes have been reported to be
associated with empty follicle syndrome (EFS) and abnormal zona pellucida (ZP). In this …

[HTML][HTML] The critical role of ZP genes in female infertility characterized by empty follicle syndrome and oocyte degeneration

P Yang, T Chen, Y Liu, Z Hou, K Wu, Y Cao, J Zhang… - Fertility and sterility, 2021 - Elsevier
Objective To identify the major causative gene (s) of genuine empty follicle syndrome
(GEFS) characterized by oocyte degeneration. Design Genetic and functional studies …