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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). Research article (journal)
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. Research article (journal)
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). Research article (journal)
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). Research article (journal)
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). Research article (journal)
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). Research article (journal)
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). Research article (journal)
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. Research article (journal)
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. Research article (journal)
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). Research article (journal)