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 …

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 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 …

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 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 …

Genetics of primary ovarian insufficiency

R Rossetti, I Ferrari, M Bonomi, L Persani - Clinical genetics, 2017 - Wiley Online Library
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the
age of 40 and account for one major cause of female infertility. POI relevance is continuously …

A search for molecular mechanisms underlying male idiopathic infertility

A Bracke, K Peeters, U Punjabi, D Hoogewijs… - Reproductive …, 2018 - Elsevier
Infertility affects approximately 15% of the couples wanting to conceive. In 30− 40% of the
cases the aetiology of male infertility remains unknown and is called idiopathic male …

Ovarian follicular theca cell recruitment, differentiation, and impact on fertility: 2017 update

JAS Richards, YA Ren, N Candelaria… - Endocrine …, 2018 - academic.oup.com
The major goal of this review is to summarize recent exciting findings that have been
published within the past 10 years that, to our knowledge, have not been presented in detail …

Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency

I Huhtaniemi, O Hovatta, A La Marca, G Livera… - Trends in Endocrinology …, 2018 - cell.com
Primary ovarian insufficiency (POI) affects∼ 1% of women before 40 years of age. The
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …