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 …

Multiomics analysis of male infertility

X Wu, L Zhou, J Shi, CY Cheng, F Sun - Biology of reproduction, 2022 - academic.oup.com
Abstract Infertility affects 8–12% of couples globally, and the male factor is a primary cause
in~ 50% of couples. Male infertility is a multifactorial reproductive disorder, which can be …

Using publicly available transcriptomic data to identify mechanistic and diagnostic biomarkers in azoospermia and overall male infertility

TS Omolaoye, MY Hachim, SS du Plessis - Scientific reports, 2022 - nature.com
Azoospermia, which is the absence of spermatozoa in an ejaculate occurring due to defects
in sperm production, or the obstruction of the reproductive tract, affects about 1% of all men …

Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects

Y Li, Y Wang, Y Wen, T Zhang, X Wang… - Human …, 2022 - academic.oup.com
STUDY QUESTION Can whole-exome sequencing (WES) and in vitro validation studies
identify new causative genes associated with teratozoospermia, particularly for sperm head …

FBXO43 variants in patients with female infertility characterized by early embryonic arrest

W Wang, W Wang, Y Xu, J Shi, J Fu, B Chen… - Human …, 2021 - academic.oup.com
STUDY QUESTION Can any new genetic factors responsible for early embryonic arrest in
infertile patients be identified, together with the mechanism of pathogenic variants …

FBXO24 modulates mRNA alternative splicing and MIWI degradation and is required for normal sperm formation and male fertility

Z Li, X Liu, Y Zhang, Y Li, L Zhou, S Yuan - Elife, 2024 - elifesciences.org
Spermiogenesis is a critical, post-meiotic phase of male gametogenesis, in which the proper
gene expression is essential for sperm maturation. However, the underFlying molecular …

Association between F‐box‐only protein 43 overexpression and hepatocellular carcinoma pathogenesis and prognosis

S Wu, L Qin, J Yang, J Wang, Y Shen - Cancer Medicine, 2023 - Wiley Online Library
Background Despite great advances in the prevention, diagnosis, treatment, and
management regarding hepatocellular carcinoma (HCC), the overall prognosis of HCC …

The emerging and diverse roles of F-box proteins in spermatogenesis and male infertility

X Zhuang, J Ruan, C Zhou, Z Li - Cell Regeneration, 2024 - Springer
F-box proteins play essential roles in various cellular processes of spermatogenesis by
means of ubiquitylation and subsequent target protein degradation. They are the substrate …

Infertility and associated factors in three hospitals in Douala, Cameroon: a cross-sectional study

TO Egbe, CN Mbaki, N Tendongfor, E Temfack… - African Health …, 2020 - ajol.info
Aim: We determined the prevalence and factors associated with couple infertility in three
hospitals in Douala, Cameroon. Methods: We conducted a cross-sectional study from …

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia

S Ozturk - Cell Cycle, 2023 - Taylor & Francis
Spermatogenic arrest is a severe form of non-obstructive azoospermia (NOA), which occurs
in 10–15% of infertile men. Interruption in spermatogenic progression at premeiotic, meiotic …