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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)
Art der Publikation: Forschungsartikel (Zeitschrift)

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
Art der Publikation: Forschungsartikel (Zeitschrift)

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
Art der Publikation: Forschungsartikel (Zeitschrift)

DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.

Dicke, Ann-Kristin; Pilatz, Adrian; Wyrwoll, Margot J; Punab, Margus; Ruckert, Christian; Nagirnaja, Liina; Aston, Kenneth I; Conrad, Donald F; Di Persio, Sara; Neuhaus, Nina; Fietz, Daniela; Laan, Maris; Stallmeyer, Birgit; Tüttelmann, Frank (2023)
In: Communications biology, 6(1)
Art der Publikation: Forschungsartikel (Zeitschrift)

The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.

Dellin, Maurice; Rohrbeck, Ina; Asrani, Purva; Schreiber, Julian A; Ritter, Nadine; Glorius, Frank; Wünsch, Bernhard; Budde, Thomas; Temme, Louisa; Strünker, Timo; Stallmeyer, Birgit; Tüttelmann, Frank; Meuth, Sven G; Spehr, Marc; Matschke, Johann; Steinbicker, Andrea; Gatsogiannis, Christos; Stoll, Raphael; Strutz-Seebohm, Nathalie; Seebohm, Guiscard (2023)
In: Journal of Biological Chemistry, 404(4)
Art der Publikation: Forschungsartikel (Zeitschrift)

Linking human Dead end 1 (DND1) variants to male infertility employing zebrafish embryos.

Westerich, Kim Joana; Reinecke, Solveig; Emich, Jana; Wyrwoll, Margot Julia; Stallmeyer, Birgit; Meyer, Matthias; Oud, Manon S; Fietz, Daniela; Pilatz, Adrian; Kliesch, Sabine; Reichman-Fried, Michal; Tarbashevich, Katsiaryna; Limon, Tamara; Stehling, Martin; Friedrich, Corinna; Tüttelmann, Frank; Raz, Erez (2023)
In: Human Reproduction, 38(4)
Art der Publikation: Forschungsartikel (Zeitschrift)

Scrutinizing the human TEX genes in the context of human male infertility.

Sieper, Marie H; Gaikwad, Avinash S; Fros, Marion; Weber, Philipp; Di Persio, Sara; Oud, Manon S; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; Tüttelmann, Frank; Wyrwoll, Margot J (2023)
In: Andrology, 12(3)
Art der Publikation: Forschungsartikel (Zeitschrift)

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.

Wyrwoll, Margot J; Köckerling, Nils; Vockel, Matthias; Dicke, Ann-Kristin; Rotte, Nadja; Pohl, Eva; Emich, Jana; Wöste, Marius; Ruckert, Christian; Wabschke, Rebecca; Seggewiss, Jochen; Ledig, Susanne; Tewes, Ann-Christin; Stratis, Yvonne; Cremers, Jann-Frederik; Krallmann, Claudia; Wistuba, Joachim; Röpke, Albrecht; Kliesch, Sabine; Friedrich, Corinna; Stallmeyer, Birgit; Tüttelmann, Frank (2022)
In: European Urology, 83(5)
Art der Publikation: Forschungsartikel (Zeitschrift)

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

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 HP; Araujo, Thaís F; Lasko, Paul; Genetics of Małe Infertility Initiative (GEMINI) consortium; 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 (2022)
In: American Journal of Human Genetics, 109(10)
Art der Publikation: Forschungsartikel (Zeitschrift)

Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.

Emich, Jana; Gaikwad, Avinash S; Stallmeyer, Birgit; Fietz, Daniela; Schuppe, Hans-Christian; Oud, Manon S; Kliesch, Sabine; Gromoll, Jörg; Friedrich, Corinna; Tüttelmann, Frank (2022)
In: Fertility and Sterility, 119(2)
Art der Publikation: Forschungsartikel (Zeitschrift)