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 …

Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans

Q Meng, B Shao, D Zhao, X Fu, J Wang, H Li, Q Zhou… - Human Genetics, 2023 - Springer
One of the most severe forms of infertility in humans, caused by gametogenic failure, is non-
obstructive azoospermia (NOA). Approximately, 20–30% of men with NOA may have single …

Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans

B Shi, W Shah, L Liu, C Gong, J Zhou… - Human …, 2023 - academic.oup.com
STUDY QUESTION What are some pathogenic mutations for non-obstructive azoospermia
(NOA) and their effects on spermatogenesis? SUMMARY ANSWER Biallelic missense and …

A homozygous missense variant in YTHDC2 induces azoospermia in two siblings

S Tian, M Faheem, HS Satti, J Xiao, F Zhang… - Molecular Genetics and …, 2024 - Springer
Male infertility is a complex multifactorial reproductive disorder with highly heterogeneous
phenotypic presentations. Azoospermia is a medically non-manageable cause of male …

Exploration des causes génétiques des infertilités masculines sévères et implémentation d'une stratégie diagnostique par séquençage haut débit

C Cazin - 2023 - theses.hal.science
L'infertilité est définie comme l'incapacité pour un couple à concevoir après 1 an de rapports
sexuels non protégés. On estime qu'un couple sur huit serait concerné par des problèmes …