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Publications

NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis Dicke, Ann-Kristin; Ahmedani, Ammar; Ma, Lin; Herrmann, Leonie; van der Heijden, Godfried W.; Koser, Sophie A.; Krallmann, Claudia; Kalyon, Oguzhan; Xavier, Miguel J.; Veltman, Joris A.; Kliesch, Sabine; Neuhaus, Nina; Kotaja, Noora; Tüttelmann, Frank; Stallmeyer, Birgit (2025) In: Nature Communications, 16(6254). doi:10.1038/s41467-025-61463-0 Research article (journal) \| Peer reviewed \| Published
Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility Gaikwad, Avinash S; Wyrwoll, Margot J; Koser, Sophie A; Emich, Jana; Kuß, Johanna; Aravina, Mariya; Krallmann, Claudia; Gromoll, Jörg; Kliesch, Sabine; Laurentino, Sandra; Stallmeyer, Birgit; Friedrich, Corinna; Tüttelmann, Frank (2025) In: EBioMedicine, 119. doi:10.1016/j.ebiom.2025.105899 Research article (journal) \| Peer reviewed \| Published
Programmierung der DNA-Methylierungsmuster in der männlichen Keimbahn Laurentino, Sandra; Neuhaus, Nina (2025) In: BIOspektrum, 31(2), 170-172. doi:10.1007/s12268-025-2446-4 Review article (journal) \| Published
Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation Young S; Schiffer C; Wagner A; Patz J; Potapenko A; Herrmann L; Nordhoff V; Pock T; Krallmann C; Stallmeyer B; Röpke A; Kierzek M; Biagioni C; Wang T; Haalck L; Deuster D; Hansen JN; Wachten D; Risse B; Behre HM; Schlatt S; Kliesch S; Tüttelmann F; Brenker C; Strünker T (2024) In: Journal of Clinical Investigation, 134(1). doi:10.1172/JCI173564 Research article (journal) \| Peer reviewed \| Published
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility Stallmeyer, Birgit; Bühlmann, Clara; Stakaitis, Rytis; Dicke, Ann-Kristin; Ghieh, Farah; Meier, Luisa; Zoch, Ansgar; MacLeod, David MacKenzie; Steingröver, Johanna; Okutman, Özlem; Fietz, Daniela; Pilatz, Adrian; Riera-Escamilla, Antoni; Xavier, Miguel J; Ruckert, Christian; Di Persio, Sara; Neuhaus, Nina; Gurbuz, Ali Sami; Şalvarci, Ahmet; Le May, Nicolas; McEleny, Kevin; Friedrich, Corinna; van der Heijden, Godfried; Wyrwoll, Margot J; Kliesch, Sabine; Veltman, Joris A; Krausz, Csilla; Viville, Stéphane; Conrad, Donald F; O'Carroll, Dónal; Tüttelmann, Frank (2024) In: Nature Communications, 15, 6637. doi:10.1038/s41467-024-50930-9 Research article (journal) \| Peer reviewed \| Published
The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis Brattig-Correia, R; Almeida, JM; Wyrwoll, MJ; Julca, I; Sobral, D; Misra, CS; Di Persio, S; Guilgur, LG; Schuppe, HC; Silva, N; Prudêncio, P; Nóvoa, A; Leocádio, AS; Bom, J; Laurentino, S; Mallo, M; Kliesch, S; Mutwil, M; Rocha, LM; Tüttelmann, F; Becker, JD; Navarro-Costa, P (2024) In: eLife, 13. doi:10.7554/elife.95774 Research article (journal) \| Peer reviewed \| Published
Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development Berglund, AM Johannsen, EB; Skakkebæk, A; Chang, S; Rohayem, J; Laurentino, S; Hørlyck, A; Drue, SO; Bak, EN; Fedder, J; Tüttelmann, F; Gromoll, J; Just, J; Gravholt, CH (2024) In: Biology of Sex Differences, 15(1). doi:10.1186/s13293-024-00654-8 Research article (journal) \| Peer reviewed \| Published
Genome-wide DNA methylation changes in human spermatogenesis Siebert-Kuss, LM; Dietrich, V; Di Persio, S; Bhaskaran, J; Stehling, M; Cremers, JF; Sandmann, S; Varghese, J; Kliesch, S; Schlatt, S; Vaquerizas, JM; Neuhaus, N; Laurentino, S (2024) In: American Journal of Human Genetics, 111. doi:10.1016/j.ajhg.2024.04.017 Research article (journal) \| Peer reviewed \| Published
WWC2 expression in the testis: Implications for spermatogenesis and male fertility. Höffken V; Di Persio S; Laurentino S; Wyrwoll MJ; Terwort N; Hermann A; Röpke A; Oud MS; Wistuba J; Kliesch S; Pavenstädt HJ; Tüttelmann F; Neuhaus N; Kremerskothen J (2023) In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 37(5), e22912-e22912. doi:10.1096/fj.202200960R Research article (journal) \| Peer reviewed \| Published
Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility. Dicke, Ann-Kristin; Albrethsen, Jakob; Hoare, Bradley L; Wyrwoll, Margot J; Busch, Alexander S; Fietz, Daniela; Pilatz, Adrian; Bühlmann, Clara; Juul, Anders; Kliesch, Sabine; Gromoll, Jörg; Bathgate, Ross A D; Tüttelmann, Frank; Stallmeyer, Birgit (2023) In: Human Reproduction, dead105. doi:10.1093/humrep/dead105 Research article (journal) \| Peer reviewed \| Published