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 …

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects

A Gheldof, DJG Mackay, Y Cheong… - Journal of Medical …, 2019 - jmg.bmj.com
During reproductive age, approximately one in seven couples are confronted with fertility
problems. While the aetiology is diverse, including infections, metabolic diseases, hormonal …

Serum concentrations of oocyte-secreted factors BMP15 and GDF9 during IVF and in women with reproductive pathologies

AH Riepsamen, K Chan, S Lien, P Sweeten… - …, 2019 - academic.oup.com
Oocyte-secreted factors bone morphogenetic protein 15 (BMP15) and growth differentiation
factor 9 (GDF9) are critical for folliculogenesis and fertility. This study developed ELISAs for …

Regulation of follicle formation and development by ovarian signaling pathways

RD Prasasya, KE Mayo - The ovary, 2019 - Elsevier
The follicle is the functional unit of the mammalian ovary and serves as a tightly controlled
microenvironment where granulosa cells nurture the growth and maturation of the oocyte …

[HTML][HTML] Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency

Y Zhou, B Chen, L Li, H Pan, B Liu, T Li, R Wang… - Fertility and …, 2019 - Elsevier
Objective To explore the candidate pathogenic gene in a premature ovarian insufficiency
(POI) proband from a consanguineous marriage and detect the potential effects of mutation …

Functional characterization of two new variants in the bone morphogenetic protein 7 prodomain in two pairs of monozygotic twins with hypospadias

A Bouty, K Walton, NA Listyasari… - Journal of the …, 2019 - academic.oup.com
Context Variants in bone morphogenetic protein 7 (BMP7) have been reported in patients
with hypospadias. Here we report and analyze two variants in the BMP7 prodomain in …