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 …

Landscape of pathogenic mutations in premature ovarian insufficiency

H Ke, S Tang, T Guo, D Hou, X Jiao, S Li, W Luo… - Nature Medicine, 2023 - nature.com
Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of
ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To …

Diversity of RNA-binding proteins modulating post-transcriptional regulation of protein expression in the maturing mammalian oocyte

M Christou-Kent, M Dhellemmes, E Lambert, PF Ray… - Cells, 2020 - mdpi.com
The oocyte faces a particular challenge in terms of gene regulation. When oocytes resume
meiosis at the end of the growth phase and prior to ovulation, the condensed chromatin state …

CPEB1-dependent disruption of the mRNA translation program in oocytes during maternal aging

N Takahashi, F Franciosi, EM Daldello… - Nature …, 2023 - nature.com
The molecular causes of deteriorating oocyte quality during aging are poorly defined. Since
oocyte developmental competence relies on post-transcriptional regulations, we tested …

A kaleidoscopic view of ovarian genes associated with premature ovarian insufficiency and senescence

Q Yang, S Mumusoglu, Y Qin, Y Sun… - The FASEB …, 2021 - Wiley Online Library
Ovarian infertility and subfertility presenting with premature ovarian insufficiency (POI) and
diminished ovarian reserve are major issues facing the developed world due to the trend of …

High-resolution array-CGH analysis on 46, XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function

I Bestetti, C Castronovo, A Sironi, C Caslini… - Human …, 2019 - academic.oup.com
STUDY QUESTION Can high resolution array-CGH analysis on a cohort of women showing
a primary ovarian insufficiency (POI) phenotype in young age identify copy number variants …

Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of …

A Rouen, E Rogers, V Kerlan, B Delemer… - Fertility and …, 2022 - Elsevier
Objective To study the diagnostic yield, including variants in genes yet to be incriminated, of
whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI) …

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

I Bestetti, C Barbieri, A Sironi, V Specchia… - Human …, 2021 - academic.oup.com
STUDY QUESTION Can a targeted whole exome sequencing (WES) on a cohort of women
showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a …

Update on the genetics and genomics of premature ovarian insufficiency

EJ Tucker, S Jaillard, AH Sinclair - Human Reproductive and Prenatal …, 2023 - Elsevier
Primary ovarian insufficiency (POI), affecting up to 1 in 100 females, is characterized by
oligomenorrhea or amenorrhea with raised gonadotropins and low estradiol. It can result …

[HTML][HTML] Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing …

A Sassi, J Désir, V Janssens, M Marangoni, D Daneels… - F&S Reports, 2020 - Elsevier
Objective To find the genetic etiology of premature ovarian insufficiency (POI) in a patient
with primary amenorrhea and hypergonadotropic hypogonadism. Design Case report …