Understanding the genetics of human infertility

Q Sang, PF Ray, L Wang - Science, 2023 - science.org
Reproduction involves a wide range of biological processes, including organ formation and
development, neuroendocrine regulation, hormone production, and meiosis and mitosis …

Genetics of human female infertility

SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …

Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism

MR Starostik, OA Sosina, RC McCoy - Genome research, 2020 - genome.cshlp.org
Less than half of human zygotes survive to birth, primarily due to aneuploidies of meiotic or
mitotic origin. Mitotic errors generate chromosomal mosaicism, defined by multiple cell …

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

C Krausz, A Riera-Escamilla, D Moreno-Mendoza… - Genetics in …, 2020 - nature.com
Purpose Azoospermia affects 1% of men and it can be the consequence of spermatogenic
maturation arrest (MA). Although the etiology of MA is likely to be of genetic origin, only 13 …

Genetic factors as potential molecular markers of human oocyte and embryo quality

Q Sang, Z Zhou, J Mu, L Wang - Journal of Assisted Reproduction and …, 2021 - Springer
Successful human reproduction requires gamete maturation, fertilization, and early
embryonic development. Human oocyte maturation includes nuclear and cytoplasmic …

Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia

C Xie, W Wang, C Tu, L Meng, G Lu… - Human reproduction …, 2022 - academic.oup.com
BACKGROUND Meiosis is an essential stage in the life cycle of sexually reproducing
species, underlying formation of haploid gametes and serving as the basis of genetic …

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

L Kasak, M Laan - Human genetics, 2021 - Springer
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …

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 …