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

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

Ubiquitin-Proteasome System Dysregulation in Alzheimer's Disease Impacts Protein Abundance.

阿尔茨海默病中泛素-蛋白酶体系统失调影响蛋白质丰度。

Collins Mahlon, Friedrich Corinna, Elcheikhali Megan, Stewart Peyton, Derks Jason, Connors-Stewart Theresa, Altig Kirstin, Melloni Alexandra, Petelski Aleksandra, Oakley Derek, Hyman Bradley, Slavov Nikolai

AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans

AXDND1对于平衡小鼠和人类的精原细胞分化以及精子尾部的形成是必需的。

Houston, Brendan J; Nguyen, Joseph; Merriner, D Jo; O'Connor, Anne E; Lopes, Alexandra M; Nagirnaja, Liina; Friedrich, Corinna; Kliesch, Sabine; Tüttelmann, Frank; Aston, Kenneth I; Conrad, Donald F; Hobbs, Robin M; Dunleavy, Jessica E M; O'Bryan, Moira K

A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility

两名互不相关的原发性不孕症女性携带两种纯合TERB1蛋白截短变异的报告

Yalcin, Zeynep; Liang, Manqi; Abdelrazek, Ibrahim M; Friedrich, Corinna; Bareke, Eric; Nabil, Amira; Tüttelmann, Frank; Majewski, Jacek; Abdalla, Ebtesam; Tan, Seang-Lin; Slim, Rima

Genetics of female and male infertility

女性和男性不育症的遗传学

Friedrich, Corinna; Tüttelmann, Frank

Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice

人类INHBB基因变异(c.1079T>C:p.Met360Thr)改变小鼠睾丸生殖细胞含量,但不影响生育能力

Houston, Brendan J; O'Connor, Anne E; Wang, Degang; Goodchild, Georgia; Merriner, D Jo; Luan, Haitong; Conrad, Don F; Nagirnaja, Liina; Aston, Kenneth I; Kliesch, Sabine; Wyrwoll, Margot J; Friedrich, Corinna; Tüttelmann, Frank; Harrison, Craig; O'Bryan, Moira K; Walton, Kelly

Oocyte and Sperm Cryopreservation In Oncological Patients During Covid-19 Pandemic

新冠疫情期间肿瘤患者的卵子和精子冷冻保存

Houston, Brendan J; Riera-Escamilla, Antoni; Wyrwoll, Margot J; Salas-Huetos, Albert; Xavier, Miguel J; Nagirnaja, Liina; Friedrich, Corinna; Conrad, Don F; Aston, Kenneth I; Krausz, Csilla; Tüttelmann, Frank; O'Bryan, Moira K; Veltman, Joris A; Oud, Manon S; Porcu, Eleonora; Cipriani, Linda; Dirodi, Maria; Calza, Nilla; Ciotti, Patrizia Maria; Tranquillo, Maria Lucrezia; Notarangelo, Leonardo; Zuffa, Silvia; Labriola, Francesca Sonia; Damiano, Giuseppe

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

通过外显子组分析对精子发生停滞进行遗传学解析:对无精子症男性治疗的临床意义

Krausz, Csilla; Riera-Escamilla, Antoni; Moreno-Mendoza, Daniel; Holleman, Kaylee; Cioppi, Francesca; Algaba, Ferran; Pybus, Marc; Friedrich, Corinna; Wyrwoll, Margot J; Casamonti, Elena; Pietroforte, Sara; Nagirnaja, Liina; Lopes, Alexandra M; Kliesch, Sabine; Pilatz, Adrian; Carrell, Douglas T; Conrad, Donald F; Ars, Elisabet; Ruiz-Castañé, Eduard; Aston, Kenneth I; Baarends, Willy M; Tüttelmann, Frank

Sodium permeable and "hypersensitive" TREK-1 channels cause ventricular tachycardia

钠离子通透性高且“高敏感性”的TREK-1通道可引起室性心动过速

Decher, Niels; Ortiz-Bonnin, Beatriz; Friedrich, Corinna; Schewe, Marcus; Kiper, Aytug K; Rinné, Susanne; Seemann, Gunnar; Peyronnet, Rémi; Zumhagen, Sven; Bustos, Daniel; Kockskämper, Jens; Kohl, Peter; Just, Steffen; González, Wendy; Baukrowitz, Thomas; Stallmeyer, Birgit; Schulze-Bahr, Eric

Estradiol regulates human QT-interval: acceleration of cardiac repolarization by enhanced KCNH2 membrane trafficking

雌二醇调节人类QT间期:通过增强KCNH2膜转运加速心脏复极化

Anneken, Lars; Baumann, Stefan; Vigneault, Patrick; Biliczki, Peter; Friedrich, Corinna; Xiao, Ling; Girmatsion, Zenawit; Takac, Ina; Brandes, Ralf P; Kissler, Stefan; Wiegratz, Inka; Zumhagen, Sven; Stallmeyer, Birgit; Hohnloser, Stefan H; Klingenheben, Thomas; Schulze-Bahr, Eric; Nattel, Stanley; Ehrlich, Joachim R