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

SPEF1 mediates assembly of the central pair microtubule complexes in cilia of Tetrahymena

SPEF1介导四膜虫纤毛中中央微管复合物的组装

Guha, Mayukh; Vasudevan, Krishna Kumar; Jiang, Yu-Yang; Louka, Panagiota; Sharma, Neeraj; Parra, Mireya; Lechtreck, Karl F; Tomasi, Raphaël F-X; Baroud, Charles N; Dupuis-Williams, Pascale; Dougherty, Gerard W; Omran, Heymut; Ozzello, Courtney; Pearson, Chad G; Joachimiak, Ewa; Wloga, Dorota; Nurcombe, Zachary W; Black, Corbin; Ghanaeian, Avrin; Mougharbel, Lina; Kitzler, Thomas M; Bui, Khanh Huy; Gaertig, Jacek

Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus

CFAP46、CFAP54、CFAP74 和 CFAP221 的致病性变异会导致原发性纤毛运动障碍,并伴有中央装置 C1d 投射缺陷。

Wohlgemuth, Kai; Hoersting, Niklas; Koenig, Julia; Loges, Niki Tomas; Raidt, Johanna; George, Sebastian; Cindrić, Sandra; Schramm, Andre; Biebach, Luisa; Lay, Simon; Dougherty, Gerard W; Olbrich, Heike; Pennekamp, Petra; Dworniczak, Bernd; Omran, Heymut

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis

隐性遗传的分泌型WFDC2(HE4)缺乏症会导致鼻息肉和支气管扩张

Dougherty, Gerard W; Ostrowski, Lawrence E; Nöthe-Menchen, Tabea; Raidt, Johanna; Schramm, Andre; Olbrich, Heike; Yin, Weining; Sears, Patrick R; Dang, Hong; Smith, Amanda J; Beule, Achim G; Hjeij, Rim; Rutjes, Niels; Haarman, Eric G; Maas, Saskia M; Ferkol, Thomas W; Noone, Peadar G; Olivier, Kenneth N; Bracht, Diana C; Barbry, Pascal; Zaragosi, Laure-Emmanuelle; Fierville, Morgane; Kliesch, Sabine; Wohlgemuth, Kai; König, Julia; George, Sebastian; Loges, Niki T; Ceppe, Agathe; Markovetz, Matthew R; Luo, Hong; Guo, Ting; Rizk, Hoda; Eldesoky, Tarek; Dahlke, Katrin; Boldt, Karsten; Ueffing, Marius; Hill, David B; Pang, Yuan-Ping; Knowles, Michael R; Zariwala, Maimoona A; Omran, Heymut

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure

CFAP74基因的隐性突变导致原发性纤毛运动障碍,但纤毛超微结构正常。

Biebach, Luisa; Cindrić, Sandra; Koenig, Julia; Aprea, Isabella; Dougherty, Gerard W; Raidt, Johanna; Bracht, Diana; Ruppel, Renate; Schreiber, Jens; Hjeij, Rim; Olbrich, Heike; Omran, Heymut

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

作者更正:人类纤毛病揭示了NEK10在气道黏液纤毛清除中的关键功能

Chivukula, Raghu R; Montoro, Daniel T; Leung, Hui Min; Yang, Jason; Shamseldin, Hanan E; Taylor, Martin S; Dougherty, Gerard W; Zariwala, Maimoona A; Carson, Johnny; Daniels, M Leigh Anne; Sears, Patrick R; Black, Katharine E; Hariri, Lida P; Almogarri, Ibrahim; Frenkel, Evgeni M; Vinarsky, Vladimir; Omran, Heymut; Knowles, Michael R; Tearney, Guillermo J; Alkuraya, Fowzan S; Sabatini, David M

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

FOXJ1基因的新生突变导致运动性纤毛病,伴有脑积水和左右身体不对称的随机化。

Wallmeier, Julia; Frank, Diana; Shoemark, Amelia; Nöthe-Menchen, Tabea; Cindric, Sandra; Olbrich, Heike; Loges, Niki T; Aprea, Isabella; Dougherty, Gerard W; Pennekamp, Petra; Kaiser, Thomas; Mitchison, Hannah M; Hogg, Claire; Carr, Siobhán B; Zariwala, Maimoona A; Ferkol, Thomas; Leigh, Margaret W; Davis, Stephanie D; Atkinson, Jeffrey; Dutcher, Susan K; Knowles, Michael R; Thiele, Holger; Altmüller, Janine; Krenz, Henrike; Wöste, Marius; Brentrup, Angela; Ahrens, Frank; Vogelberg, Christian; Morris-Rosendahl, Deborah J; Omran, Heymut

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice

左右不对称和先天性心脏缺陷的随机化:DNAH5 在人类和小鼠中的作用

Nöthe-Menchen, Tabea; Wallmeier, Julia; Pennekamp, Petra; Höben, Inga M; Olbrich, Heike; Loges, Niki T; Raidt, Johanna; Dougherty, Gerard W; Hjeij, Rim; Dworniczak, Bernd; Omran, Heymut

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.

进化蛋白质组学揭示纤毛与信号通路之间的古老关联

Sigg Monika Abedin, Menchen Tabea, Lee Chanjae, Johnson Jeffery, Jungnickel Melissa K, Choksi Semil P, Garcia Galo 3rd, Busengdal Henriette, Dougherty Gerard W, Pennekamp Petra, Werner Claudius, Rentzsch Fabian, Florman Harvey M, Krogan Nevan, Wallingford John B, Omran Heymut, Reiter Jeremy F

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

SPAG1基因突变会导致原发性纤毛运动障碍,并伴有外动力蛋白臂和内动力蛋白臂缺陷。

Knowles, Michael R; Ostrowski, Lawrence E; Loges, Niki T; Hurd, Toby; Leigh, Margaret W; Huang, Lu; Wolf, Whitney E; Carson, Johnny L; Hazucha, Milan J; Yin, Weining; Davis, Stephanie D; Dell, Sharon D; Ferkol, Thomas W; Sagel, Scott D; Olivier, Kenneth N; Jahnke, Charlotte; Olbrich, Heike; Werner, Claudius; Raidt, Johanna; Wallmeier, Julia; Pennekamp, Petra; Dougherty, Gerard W; Hjeij, Rim; Gee, Heon Yung; Otto, Edgar A; Halbritter, Jan; Chaki, Moumita; Diaz, Katrina A; Braun, Daniela A; Porath, Jonathan D; Schueler, Markus; Baktai, György; Griese, Matthias; Turner, Emily H; Lewis, Alexandra P; Bamshad, Michael J; Nickerson, Deborah A; Hildebrandt, Friedhelm; Shendure, Jay; Omran, Heymut; Zariwala, Maimoona A

The Rsu-1-PINCH1-ILK complex is regulated by Ras activation in tumor cells

肿瘤细胞中 Ras 激活调控 Rsu-1-PINCH1-ILK 复合物

Dougherty, Gerard W; Jose, Cynthia; Gimona, Mario; Cutler, Mary Lou