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

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 identified a homozygous frameshift variant in FKBP6 in a man with extreme oligozoospermia. Subsequently, we screened a total of...

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Detalles Bibliográficos
Autores principales: Wyrwoll, Margot J., Gaasbeek, Channah M., Golubickaite, Ieva, Stakaitis, Rytis, Oud, Manon S., Nagirnaja, Liina, Dion, Camille, Sindi, Emad B., Leitch, Harry G., Jayasena, Channa N., Sironen, Anu, Dicke, Ann-Kristin, Rotte, Nadja, Stallmeyer, Birgit, Kliesch, Sabine, Grangeiro, Carlos H.P., Araujo, Thaís F., Lasko, Paul, D’Hauwers, Kathleen, Smits, Roos M., Ramos, Liliana, Xavier, Miguel J., Conrad, Don F., Almstrup, Kristian, Veltman, Joris A., Tüttelmann, Frank, van der Heijden, Godfried W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606565/
https://www.ncbi.nlm.nih.gov/pubmed/36150389
http://dx.doi.org/10.1016/j.ajhg.2022.09.002

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