2 documents found, page 1 of 1
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in me...
Salas-Huetos, Albert; Tüttelmann, Frank; Wyrwoll, Margot J.; Kliesch, Sabine; Lopes, Alexandra M.; Gonçalves, João; Boyden, Steven E.; Wöste, MariusNon-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in which multiple sons displayed the NOA phenotype. We performed whole-exome sequencing in three ...
Biallelic mutations in M1AP are associated with meiotic arrest, severely impair...
Friedrich, C.; Temel, S.G.; Nagirnaja, L.; Oud, M.S.; Lopes, A.M.; van der Heijden, G.W.; Heald, J.; Rotte, N.; Heald, J.; Rotte, N.; Wistuba, J.Male infertility affects ~7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis, but so far only few validated causal genes have been reported. To address this gap, we performed whole exome sequencing in 58 men with unexplained meiotic arrest and identified in three unrelated men the same homozygous frames...