Analysis of copy number variation in men with non-obstructive azoospermia

Autor: Wyrwoll, M.J., Wabschke, R., Röpke, A., Wöste, M., Ruckert, C., Perrey, S., Rotte, N., Hardy, J., Astica, L., Lupianez, D.G., Wistuba, J., Westernströer, B., Schlatt, S., Berman, A.J., Müller, A.M., Kliesch, S., Yatsenko, A.N., Tüttelmann, F., Friedrich, C.

BACKGROUND: Recent findings demonstrate that single nucleotide variants can cause non-obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. Some have reported a higher prevalence o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=mdc______med::f5c6c7700efd9c7224c770815a735b3b
http://edoc.mdc-berlin.de/22051/2/22051suppl.zip

The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans

Autor: Wyrwoll, MJ, Gaasbeek, CM, Golubickaite, I, Stakaitis, R, Oud, MS, Nagirnaja, L, Dion, C, Sindi, EB, Leitch, HG, Jayasena, CN, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, CHP, Araujo, TF, Lasko, P, Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers, K, Smits, RM, Ramos, L, Xavier, MJ, Conrad, DF, Almstrup, K, Veltman, JA, Tüttelmann, F, Van der Heijden, GW

Publikováno v: Wyrwoll, M J, Gaasbeek, C M, Golubickaite, I, Stakaitis, R, Oud, M S, Nagirnaja, L, Dion, C, Sindi, E B, Leitch, H G, Jayasena, C N, Sironen, A, Dicke, A-K, Rotte, N, Stallmeyer, B, Kliesch, S, Grangeiro, C H P, Araujo, T F, Lasko, P, D'Hauwers, K, Smits, R M, Ramos, L, Xavier, M J, Conrad, D F, Almstrup, K, Veltman, J A, Tüttelmann, F, van der Heijden, G W & Genetics of Male Infertility Initiative (GEMINI) consortium 2022, ' The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans ', American Journal of Human Genetics, vol. 109, no. 10, pp. 1850-1866 . https://doi.org/10.1016/j.ajhg.2022.09.002
American Journal of Human Genetics, 109, 10, pp. 1850-1866
American Journal of Human Genetics, 109, 1850-1866

Contains fulltext : 282942.pdf (Publisher’s version ) (Open Access) Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651bdd0e39b0065428325e62a6a8c971
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/282942

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Biallelic mutations in M1AP are associated with meiotic arrest, severely impaired spermatogenesis and male infertility

Autor: Friedrich, C., Temel, S.G., Nagirnaja, L., Oud, M.S., Lopes, A.M., van der Heijden, G.W., Heald, J., Rotte, N., Wistuba, J., Wöste, M., Ledig, S., Krenz, H., Smits, R.M., Carvalho, F., Gonçalves, João, Fietz, D., Türkgenç, B., Ergören, M.C., Çetinkaya, M., Başar, M., Kahraman, S., McEleny, K., Xavier, M.J., Turner, H., Pilatz, A., Röpke, A., Dugas, M., Kliesch, S., Neuhaus, N., GEMINI Consortium, Aston, K.I., Conrad, D.F., Veltman, J.A., Wyrwoll, M.J., Tüttelmann, F.

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.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::acf431ca36314bc879f9c14b882533ab
https://hdl.handle.net/10400.18/7444

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