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

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

TTC25 缺乏导致外动力蛋白臂对接机制缺陷和原发性纤毛运动障碍,伴有左右身体不对称随机化

Julia Wallmeier, Hidetaka Shiratori, Gerard W Dougherty, Christine Edelbusch, Rim Hjeij, Niki T Loges, Tabea Menchen, Heike Olbrich, Petra Pennekamp, Johanna Raidt, Claudius Werner, Katsura Minegishi, Kyosuke Shinohara, Yasuko Asai, Katsuyoshi Takaoka, Chanjae Lee, Matthias Griese, Yasin Memari, Ric

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

DNAH11 定位于呼吸道纤毛近端区域,定义了不同的外动力蛋白臂复合物

Gerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea Menchen, Johanna Raidt, Julia Wallmeier, Claudius Werner, Cordula Westermann, Christian Ruckert, Virginia Mirra, Rim Hjeij, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Kavita Praveen, Mohammad A Ka

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

功能丧失的 GAS8 突变导致原发性纤毛运动障碍并破坏 Nexin-Dynein 调节复合物

Heike Olbrich, Carolin Cremers, Niki T Loges, Claudius Werner, Kim G Nielsen, June K Marthin, Maria Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard W Dougherty, Oliver Schwartz, Holger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

CCNO 突变导致先天性粘液纤毛清除障碍,导致多个运动纤毛生成减少

Julia Wallmeier, Dalal A Al-Mutairi, Chun-Ting Chen, Niki Tomas Loges, Petra Pennekamp, Tabea Menchen, Lina Ma, Hanan E Shamseldin, Heike Olbrich, Gerard W Dougherty, Claudius Werner, Basel H Alsabah, Gabriele Köhler, Martine Jaspers, Mieke Boon, Matthias Griese, Sabina Schmitt-Grohé, Theodor Zimmer

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

CCDC151 突变通过破坏外动力蛋白臂对接复合物的形成,导致原发性纤毛运动障碍

Rim Hjeij, Alexandros Onoufriadis, Christopher M Watson, Christopher E Slagle, Nikolai T Klena, Gerard W Dougherty, Małgorzata Kurkowiak, Niki T Loges, Christine P Diggle, Nicholas F C Morante, George C Gabriel, Kristi L Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June Kehlet Ma