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 …

Genetics of primary ovarian insufficiency: new developments and opportunities

Y Qin, X Jiao, JL Simpson… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …

Genetic insights into biological mechanisms governing human ovarian ageing

KS Ruth, FR Day, J Hussain, A Martínez-Marchal… - Nature, 2021 - nature.com
Reproductive longevity is essential for fertility and influences healthy ageing in women,, but
insights into its underlying biological mechanisms and treatments to preserve it are limited …

Molecular genetics of premature ovarian insufficiency

X Jiao, H Ke, Y Qin, ZJ Chen - Trends in Endocrinology & Metabolism, 2018 - cell.com
Premature ovarian insufficiency (POI) is highly heterogeneous in genetic etiology. Yet
identifying causative genes has been challenging with candidate gene approaches. Recent …

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 …

Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum

EJ Tucker, SR Grover, A Bachelot, P Touraine… - Endocrine …, 2016 - academic.oup.com
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …

[HTML][HTML] Premature Ovarian Insufficiency-an update on recent advances in understanding and management

S Torrealday, P Kodaman, L Pal - F1000Research, 2017 - ncbi.nlm.nih.gov
Premature ovarian insufficiency is a complex and relatively poorly understood entity with a
myriad of etiologies and multisystem sequelae that stem from premature deprivation of …

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 …

Human female meiosis revised: new insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging

A Capalbo, ER Hoffmann, D Cimadomo… - Human reproduction …, 2017 - academic.oup.com
ABSTRACT BACKGROUND The unbalanced transmission of chromosomes in human
gametes and early preimplantation embryos causes aneuploidy, which is a major cause of …