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 …
Genetics of azoospermia
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia
C **e, 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 …
species, underlying formation of haploid gametes and serving as the basis of genetic …
Genetics of the congenital absence of the vas deferens
Congenital absence of the vas deferens (CAVD) may have various clinical presentations
depending on whether it is bilateral (CBAVD) or unilateral (CUAVD), complete or partial, and …
depending on whether it is bilateral (CBAVD) or unilateral (CUAVD), complete or partial, and …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives
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 …
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
[HTML][HTML] A genomics approach to male infertility
Purpose Male infertility remains poorly understood at the molecular level. We aimed in this
study to investigate the yield of a “genomics first” approach to male infertility. Methods …
study to investigate the yield of a “genomics first” approach to male infertility. Methods …
Disease gene discovery in male infertility: past, present and future
Identifying the genes causing male infertility is important to increase our biological
understanding as well as the diagnostic yield and clinical relevance of genetic testing in this …
understanding as well as the diagnostic yield and clinical relevance of genetic testing in this …
The Fanconi anemia pathway and fertility
Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure
and cancer predispositions. The past two decades have seen an explosion of data in the FA …
and cancer predispositions. The past two decades have seen an explosion of data in the FA …
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
[HTML][HTML] The fate of leydig cells in men with spermatogenic failure
D Adamczewska, J Słowikowska-Hilczer… - Life, 2022 - mdpi.com
The steroidogenic cells in the testicle, Leydig cells, located in the interstitial compartment,
play a vital role in male reproductive tract development, maintenance of proper …
play a vital role in male reproductive tract development, maintenance of proper …