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

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations

对 1236 名已进行基因分型的原发性纤毛运动障碍患者的分析,发现了不同 DNA 变异的区域性聚集以及显著的基因型-表型相关性。

Raidt, Johanna; Riepenhausen, Sarah; Pennekamp, Petra; Olbrich, Heike; Amirav, Israel; Athanazio, Rodrigo A; Aviram, Micha; Balinotti, Juan E; Bar-On, Ophir; Bode, Sebastian F N; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioğlu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Große-Onnebrink, Jörg; Gwozdziewicz, Karolina; Haarman, Eric G; Hansen, Christine R; Hogg, Claire; Holgersen, Mathias G; Kerem, Eitan; Körner, Robert W; Kötz, Karsten; Kouis, Panayiotis; Loebinger, Michael R; Lorent, Natalie; Lucas, Jane S; Maj, Debora; Mall, Marcus A; Marthin, June K; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M; Nöthe-Menchen, Tabea; Özçelik, Ugur; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C; Roehmel, Jobst F; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Sperstad Kennelly, Synne; Staar, Ben O; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Varghese, Julian; von Hardenberg, Sandra; Walker, Woolf T; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zschocke, Anna; Ziętkiewicz, Ewa; Nielsen, Kim G; 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

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

Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells

细胞周期蛋白O (Ccno) 在多纤毛细胞中由中心粒体介导的中心粒扩增过程中发挥作用

Funk, Maja C; Bera, Agata N; Menchen, Tabea; Kuales, Georg; Thriene, Kerstin; Lienkamp, Soeren S; Dengjel, Jörn; Omran, Heymut; Frank, Marcus; Arnold, Sebastian J

Situs inversus and ciliary abnormalities: 20 years later, what is the connection?

内脏反位和纤毛异常:20 年后,二者之间有何联系?

Pennekamp, Petra; Menchen, Tabea; Dworniczak, Bernd; Hamada, Hiroshi