Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects

Q Li, L Zhao, Y Zeng, Y Kuang, Y Guan, B Chen, S Xu… - Genome Biology, 2023 - Springer
Background Oocyte maturation arrest and early embryonic arrest are important reproductive
phenotypes resulting in female infertility and cause the recurrent failure of assisted …

Meiosis interrupted: the genetics of female infertility via meiotic failure

L Biswas, K Tyc, W El Yakoubi, K Morgan… - …, 2021 - rep.bioscientifica.com
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …

De novo mutations in children born after medical assisted reproduction

RM Smits, MJ Xavier, MS Oud, GDN Astuti… - Human …, 2022 - academic.oup.com
STUDY QUESTION Are there more de novo mutations (DNMs) present in the genomes of
children born through medical assisted reproduction (MAR) compared to spontaneously …

A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure

L Volozonoka, A Miskova, L Kornejeva… - …, 2022 - rep.bioscientifica.com
Genetic testing is becoming increasingly required at almost every stage of failed female
reproduction/infertility. Nonetheless, clinical evidence for the majority of identified gene …

IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility

J Wu, D Li, X Liu, Q Li, X He, J Wei, X Li… - Nucleic Acids …, 2021 - academic.oup.com
Infertility is a complex multifactorial disease that affects up to 10% of couples across the
world. However, many mechanisms of infertility remain unclear due to the lack of studies …

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 …

Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review

Y Wei, J Wang, R Qu, W Zhang, Y Tan… - Human …, 2024 - academic.oup.com
BACKGROUND Infertility and pregnancy loss are longstanding problems. Successful
fertilization and high-quality embryos are prerequisites for an ongoing pregnancy. Studies …

Transcriptome profiling of human oocytes experiencing recurrent total fertilization failure

L Suo, YX Zhou, LL Jia, HB Wu, J Zheng, QF Lyu… - Scientific Reports, 2018 - nature.com
There exist some patients who face recurrent total fertilization failure during assisted
reproduction treatment, but the pathological mechanism underlying is elusive. Here, by …

Targeted next-generation sequencing indicates a frequent oligogenic involvement in primary ovarian insufficiency onset

R Rossetti, S Moleri, F Guizzardi, D Gentilini… - Frontiers in …, 2021 - frontiersin.org
Primary ovarian insufficiency (POI) is one of the major causes of female infertility associated
with the premature loss of ovarian function in about 3.7% of women before the age of 40 …

Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest

A Capalbo, S Buonaiuto, M Figliuzzi… - Reproductive …, 2022 - Elsevier
Research question Can a methodology be developed for case selection and whole-exome
sequencing (WES) analysis of women who are infertile owing to recurrent oocyte maturation …