Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

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

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

Autor: Houston, BJ, Riera-Escamilla, A, Wyrwoll, MJ, Salas-Huetos, A, Xavier, MJ, Nagirnaja, L, Friedrich, C, Conrad, DF, Aston, KI, Krausz, C, Tuttelmann, F, O'Bryan, MK, Veltman, JA, Oud, MS

Publikováno v: HUMAN REPRODUCTION UPDATE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

BACKGROUND: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7dd2d6af768fb35148a10f9dbfa4ae3a
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7702

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

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