Crosstalk between PTEN/PI3K/Akt signalling and DNA damage in the oocyte: implications for primordial follicle activation, oocyte quality and ageing
The preservation of genome integrity in the mammalian female germline from primordial
follicle arrest to activation of growth to oocyte maturation is fundamental to ensure …
follicle arrest to activation of growth to oocyte maturation is fundamental to ensure …
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 …
term. Female factors alone account for at least 35% of all infertility cases and comprise a …
Genetic predisposition to mosaic Y chromosome loss in blood
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …
Genetics of ovarian insufficiency and defects of folliculogenesis
MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …
which leads to infertility before the age of 40 years. It is characterized by a strong familial …
EMAS position statement: predictors of premature and early natural menopause
Introduction While the associations of genetic, reproductive and environmental factors with
the timing of natural menopause have been extensively investigated, few epidemiological …
the timing of natural menopause have been extensively investigated, few epidemiological …
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 …
species, underlying formation of haploid gametes and serving as the basis of genetic …
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans
Human infertility is a multifactorial disease that affects 8%–12% of reproductive-aged
couples worldwide. However, the genetic causes of human infertility are still poorly …
couples worldwide. However, the genetic causes of human infertility are still poorly …
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 …
Genome instability and DNA repair in somatic and reproductive aging
Genetic material is constantly subjected to genotoxic insults and is critically dependent on
DNA repair. Genome maintenance mechanisms differ in somatic and germ cells as the soma …
DNA repair. Genome maintenance mechanisms differ in somatic and germ cells as the soma …
The Fanconi anemia pathway and fertility
V Tsui, W Crismani - Trends in Genetics, 2019 - cell.com
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 …