Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects
Background Oocyte maturation arrest and early embryonic arrest are important reproductive
phenotypes resulting in female infertility and cause the recurrent failure of assisted …
phenotypes resulting in female infertility and cause the recurrent failure of assisted …
Meiosis interrupted: the genetics of female infertility via meiotic failure
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …
De novo mutations in children born after medical assisted reproduction
STUDY QUESTION Are there more de novo mutations (DNMs) present in the genomes of
children born through medical assisted reproduction (MAR) compared to spontaneously …
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 …
reproduction/infertility. Nonetheless, clinical evidence for the majority of identified gene …
IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility
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 …
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 …
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 …
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 …
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 …
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 …
sequencing (WES) analysis of women who are infertile owing to recurrent oocyte maturation …