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 #

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

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

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

Human iPS cell model of type 3 long QT syndrome recapitulates drug-based phenotype correction

3 型长 QT 综合征的人类 iPS 细胞模型重现了基于药物的表型校正

Daniela Malan, Miao Zhang, Birgit Stallmeyer, Jovanca Müller, Bernd K Fleischmann, Eric Schulze-Bahr, Philipp Sasse, Boris Greber

Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T)

KV7.1 和 KCNE1 的结构相互作用对于正常复极至关重要,但在短 QT 综合征 2 (KV7.1-A287T) 中受到损害

Ina Rothenberg, Ilaria Piccini, Eva Wrobel, Birgit Stallmeyer, Jovanca Müller, Boris Greber, Nathalie Strutz-Seebohm, Eric Schulze-Bahr, Nicole Schmitt, Guiscard Seebohm

A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome

心脏钠通道基因 SCN5A 的杂合缺失突变具有功能丧失和获得的特征,表现为单独的传导疾病,没有 Brugada 或长 QT 综合征的体征

Sven Zumhagen, Marieke W Veldkamp, Birgit Stallmeyer, Antonius Baartscheer, Lars Eckardt, Matthias Paul, Carol Ann Remme, Zahurul A Bhuiyan, Connie R Bezzina, Eric Schulze-Bahr