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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 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
Genotype-specific differences in infertile men due to loss-of-function variants in <i>M1AP</i> or ZZS genes Rotte, Nadja; Dunleavy, Jessica E. M.; Runkel, Michelle D.; Bosse, Lina; Fietz, Daniela; Pilatz, Adrian; Kuss, Johanna; Dicke, Ann-Kristin; Winge, Sofia B.; Di Persio, Sara; Ruckert, Christian; Nordhoff, Verena; Schuppe, Hans-Christian; Almstrup, Kristian; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; O'Bryan, Moira K.; Tuettelmann, Frank; Friedrich, Corinna (2025) In: EMBO Molecular Medicine, 17(6). doi:10.1038/s44321-025-00244-0 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
M1AP in meiotic recombination: genotype-specific differences in meiotic arrest Rotte, Nadja; Dunleavy, Jessica; Runkel, Michelle Diane; Fietz, D.; Pilatz, Adrian; Kuss, Johanna; Ann-Kristin, Dicke; Winge, Sofia Boeg; di Persio, Sara; Ruckert, Christian; Nordhoff, Verena; Schuppe, Hans-Christian; Almstrup, Kristian; Kliesch, Sabine; Neuhaus, Nina; Stallmeyer, Birgit; O'Bryan, Moira; Tuettelmann, Frank; Friedrich, Corinna (2025) In: European Journal of Human Genetics, 32. Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
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 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
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 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
Deep learning predicts therapy-relevant genetics in acute myeloid leukemia from Pappenheim-stained bone marrow smears Kockwelp, Jacqueline; Thiele, Sebastian; Bartsch, Jannis; Haalck, Lars; Gromoll, Jörg; Schlatt, Stefan; Exeler, Rita; Bleckmann, Annalen; Lenz, Georg; Wolf, Sebastian; Steffen, Björn; Berdel, Wolfgang Eduard; Schliemann, Christoph; Risse, Benjamin; Angenendt, Linus (2024) In: Blood Advances, 8(1), 70-79. doi:10.1182/bloodadvances.2023011076 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. Yalcin Z; Liang M; Abdelrazek IM; Friedrich C; Bareke E; Nabil A; Tüttelmann F; Majewski J; Abdalla E; Tan SL; Slim R (2024) In: Journal of Assisted Reproduction and Genetics, 41(3), 751-756. doi:10.1007/s10815-024-03031-x Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans. Houston BJ; Nguyen J; Merriner DJ; O'Connor AE; Lopes AM; Nagirnaja L; Friedrich C; Kliesch S; Tüttelmann F; Aston KI; Conrad DF; Hobbs RM; Dunleavy JEM; O'Bryan MK (2024) In: Cell Death and Disease, 15(7), 499-499. doi:10.1038/s41419-024-06874-5 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line. Zoch A; Konieczny G; Auchynnikava T; Stallmeyer B; Rotte N; Heep M; Berrens RV; Schito M; Kabayama Y; Schöpp T; Kliesch S; Houston B; Nagirnaja L; O'Bryan MK; Aston KI; Conrad DF; Rappsilber J; Allshire RC; Cook AG; Tüttelmann F; O'Carroll D (2024) In: Molecular Cell, 84(6), 1021.e11-1035.e11. doi:10.1016/j.molcel.2024.01.014 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. Ansari M; Faour KNW; Shimamura A; Grimes G; Kao EM; Denhoff ER; Blatnik A; Ben-Isvy D; Wang L; Helm BM; Firth H; Breman AM; Bijlsma EK; Iwata-Otsubo A; de Ravel TJL; Fusaro V; Fryer A; Nykamp K; Stühn LG; Haack TB; Korenke GC; Constantinou P; Bujakowska KM; Low KJ; Place E; Humberson J; Napier MP; Hoffman J; Juusola J; Deardorff MA; Shao W; Rockowitz S; Krantz I; Kaur M; Raible S; Dortenzio V; Kliesch S; Singer-Berk M; Groopman E; DiTroia S; Ballal S; Srivastava S; Rothfelder K; Biskup S; Rzasa J; Kerkhof J; McConkey H; Sadikovic B; Hilton S; Banka S; Tüttelmann F; Conrad DF; O'Donnell-Luria A; Talkowski ME; FitzPatrick DR; Boone PM (2024) In: HGG Advances - Human Genetics and Genomics Advances, 5(2), 100273-100273. doi:10.1016/j.xhgg.2024.100273 Forschungsartikel (Zeitschrift) \| Peer reviewed \| Veröffentlicht