日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

NXT2 is a key component of the RNA nuclear export factor complex in the human testis and essential for spermatogenesis

NXT2是人类睾丸中RNA核输出因子复合物的关键组成部分,对精子发生至关重要。

Ann-Kristin Dicke,Ammar Ahmedani,Lin Ma,Leonie Herrmann,Godfried W van der Heijden,Sophie A Koser,Claudia Krallmann,Oguzhan Kalyon,Miguel J Xavier,Joris A Veltman,Sabine Kliesch,Nina Neuhaus,Noora Kotaja,Frank Tüttelmann #,Birgit Stallmeyer #

Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.

核受体变异体的功能和临床见解,以推进男性不育症的精准诊断

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

Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes

由于M1AP或ZZS基因功能缺失变异导致的男性不育存在基因型特异性差异

Nadja Rotte ,Jessica E M Dunleavy ,Michelle D Runkel ,Lina Bosse ,Daniela Fietz ,Adrian Pilatz ,Johanna Kuss ,Ann-Kristin Dicke ,Sofia B Winge ,Sara Di Persio ,Christian Ruckert ,Verena Nordhoff ,Hans-Christian Schuppe ,Kristian Almstrup ,Sabine Kliesch ,Nina Neuhaus ,Birgit Stallmeyer ,Moira K O'Bryan ,Frank Tüttelmann ,Corinna Friedrich

How exome sequencing improves the diagnostics and management of men with non-syndromic infertility

外显子组测序如何改善非综合征性不育男性的诊断和治疗

Stallmeyer, Birgit; Dicke, Ann-Kristin; Tüttelmann, Frank

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility

piRNA生物合成的遗传缺陷会导致转座子去抑制、精子发生受损和男性不育。

Birgit Stallmeyer,Clara Bühlmann,Rytis Stakaitis,Ann-Kristin Dicke,Farah Ghieh,Luisa Meier,Ansgar Zoch,David MacKenzie MacLeod,Johanna Steingröver,Özlem Okutman,Daniela Fietz,Adrian Pilatz,Antoni Riera-Escamilla,Miguel J Xavier,Christian Ruckert,Sara Di Persio,Nina Neuhaus,Ali Sami Gurbuz,Ahmet Şalvarci,Nicolas Le May,Kevin McEleny,Corinna Friedrich,Godfried van der Heijden,Margot J Wyrwoll,Sabine Kliesch,Joris A Veltman,Csilla Krausz,Stéphane Viville,Donald F Conrad,Dónal O'Carroll,Frank Tüttelmann

C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line

C19ORF84连接piRNA和DNA甲基化机制,以保护哺乳动物生殖细胞系。

Ansgar Zoch ,Gabriela Konieczny ,Tania Auchynnikava ,Birgit Stallmeyer ,Nadja Rotte ,Madeleine Heep ,Rebecca V Berrens ,Martina Schito ,Yuka Kabayama ,Theresa Schöpp ,Sabine Kliesch ,Brendan Houston ,Liina Nagirnaja ,Moira K O'Bryan ,Kenneth I Aston ,Donald F Conrad ,Juri Rappsilber ,Robin C Allshire ,Atlanta G Cook ,Frank Tüttelmann ,Dónal O'Carroll

Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

人类体内和体外受精需要 CatSper 通道来启动精子过度活跃

Samuel Young, Christian Schiffer, Alice Wagner, Jannika Patz, Anton Potapenko, Leonie Herrmann, Verena Nordhoff, Tim Pock, Claudia Krallmann, Birgit Stallmeyer, Albrecht Röpke, Michelina Kierzek, Cristina Biagioni, Tao Wang, Lars Haalck, Dirk Deuster, Jan N Hansen, Dagmar Wachten, Benjamin Risse, He

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

DDX3Y可能是AZFa区域中导致人类非梗阻性无精子症的关键生精因子。

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

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

全基因组关联分析发现了新的布鲁加达综合征风险位点,并揭示了钠通道调控在疾病易感性中的新机制。

Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F; Cerrato, Natascia; Martins, Raphaël P; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B; Boukens, Bas J; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H; van den Berg, Leonard H; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E; Cerrone, Marina; Chinitz, Larry A; Volders, Paul G; van de Berg, Maarten P; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R; Hasdemir, Can; Schwartz, Peter J; Crotti, Lia; McKeown, Pascal P; Sharma, Sanjay; Behr, Elijah R; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L; Remme, Carol A; Postema, Pieter G; Delmar, Mario; Ellinor, Patrick T; Lubitz, Steven A; Gourraud, Jean-Baptiste; Tanck, Michael W; George, Alfred L Jr; MacRae, Calum A; Burridge, Paul W; Dina, Christian; Probst, Vincent; Wilde, Arthur A; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R

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

piRNA通路因子FKBP6对精子发生至关重要,但对人类减数分裂LINE-1表达的调控并非必需。

Margot J Wyrwoll ,Channah M Gaasbeek ,Ieva Golubickaite ,Rytis Stakaitis ,Manon S Oud ,Liina Nagirnaja ,Camille Dion ,Emad B Sindi ,Harry G Leitch ,Channa N Jayasena ,Anu Sironen ,Ann-Kristin Dicke ,Nadja Rotte ,Birgit Stallmeyer ,Sabine Kliesch ,Carlos H P Grangeiro ,Thaís F Araujo ,Paul Lasko ,Roos M Smits ,Liliana Ramos ,Miguel J Xavier ,Don F Conrad ,Kristian Almstrup ,Joris A Veltman ,Frank Tüttelmann ,Godfried W van der Heijden