A defective structural zipper in photoreceptors causes inherited blindness von Faber, Siebren, Roepman, Ronald

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Artificial intelligence: A powerful paradigm for scientific research von Xu, Yongjun, Liu, Xin, Cao, Xin, Huang, Changping, Liu, Enke, Qian, Sen, Liu, Xingchen, Wu, Yanjun, Dong, Fengliang, Qiu, Cheng-Wei, Qiu, Junjun, Hua, Keqin, Su, Wentao, Wu, Jian, Xu, Huiyu, Han, Yong, Fu, Chenguang, Yin, Zhigang, Liu, Miao, Roepman, Ronald, Dietmann, Sabine, Virta, Marko, Kengara, Fredrick, Zhang, Ze, Zhang, Lifu, Zhao, Taolan, Dai, Ji, Yang, Jialiang, Lan, Liang, Luo, Ming, Liu, Zhaofeng, An, Tao, Zhang, Bin, He, Xiao, Cong, Shan, Liu, Xiaohong, Zhang, Wei, Lewis, James P., Tiedje, James M., Wang, Qi, An, Zhulin, Wang, Fei, Zhang, Libo, Huang, Tao, Lu, Chuan, Cai, Zhipeng, Wang, Fang, Zhang, Jiabao

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Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia von Vriend, Jelle, Peters, Janny G.P., Nieskens, Tom T.G., Škovroňová, Renata, Blaimschein, Nina, Schmidts, Miriam, Roepman, Ronald, Schirris, Tom J.J., Russel, Frans G.M., Masereeuw, Rosalinde, Wilmer, Martijn J.

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DYX1C1 is required for axonemal dynein assembly and ciliary motility von Tarkar, Aarti, Loges, Niki T, Slagle, Christopher E, Francis, Richard, Dougherty, Gerard W, Tamayo, Joel V, Shook, Brett, Cantino, Marie, Schwartz, Daniel, Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Abouhamed, Marouan, Hjeij, Rim, Köhler, Gabriele, Griese, Matthias, Li, You, Lemke, Kristi, Klena, Nikolas, Liu, Xiaoqin, Gabriel, George, Tobita, Kimimasa, Jaspers, Martine, Morgan, Lucy C, Shapiro, Adam J, Letteboer, Stef J F, Mans, Dorus A, Carson, Johnny L, Leigh, Margaret W, Wolf, Whitney E, Chen, Serafine, Lucas, Jane S, Onoufriadis, Alexandros, Plagnol, Vincent, Schmidts, Miriam, Boldt, Karsten, Roepman, Ronald, Zariwala, Maimoona A, Lo, Cecilia W, Mitchison, Hannah M, Knowles, Michael R, Burdine, Rebecca D, LoTurco, Joseph J, Omran, Heymut

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation von Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.

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Polycystic liver disease: ductal plate malformation and the primary cilium von Wills, Edgar S, Roepman, Ronald, Drenth, Joost P.H

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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 von Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T, van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A, Eisenberger, Tobias, Elting, Mariet W, van Wijk, Joanna A E, Bockenhauer, Detlef, Sebire, Neil J, Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J, Elshakhs, Neveen A Soliman, Koon, Sarah J, Harris, Peter C, Grahammer, Florian, Huber, Tobias B, Kuehn, E Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J, Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S

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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome von Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.

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Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation von Moya-Molina, Marina, Dorgau, Birthe, Flood, Emily, Letteboer, Stef J. F., Lorentzen, Esben, Coxhead, Jonathan, Smith, Graham, Roepman, Ronald, Nagaraja Grellscheid, Sushma, Armstrong, Lyle, Lako, Majlinda

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Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA von Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M. H. F., Lugtenberg, Dorien, Klaren, Peter. H. M., Vissers, Lisenka E. L. M., Roepman, Ronald, Oud, Machteld M.

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Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9 von Dyke, Emma, Bijnagte-Schoenmaker, Chantal, Wu, Ka Man, Oudakker, Astrid, Roepman, Ronald, Nadif Kasri, Nael

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A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells von Maerker, Tina, van Wijk, Erwin, Overlack, Nora, Kersten, Ferry F.J., McGee, JoAnn, Goldmann, Tobias, Sehn, Elisabeth, Roepman, Ronald, Walsh, Edward J., Kremer, Hannie, Wolfrum, Uwe

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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype von Lamers, Ideke J.C., Reijnders, Margot R.F., Venselaar, Hanka, Kraus, Alison, Jansen, Sandra, de Vries, Bert B.A., Houge, Gunnar, Gradek, Gyri Aasland, Seo, Jieun, Choi, Murim, Chae, Jong-Hee, van der Burgt, Ineke, Pfundt, Rolph, Letteboer, Stef J.F., van Beersum, Sylvia E.C., Dusseljee, Simone, Brunner, Han G., Doherty, Dan, Kleefstra, Tjitske, Roepman, Ronald

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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking von Bachmann-Gagescu, Ruxandra, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A, van Beersum, Sylvia E C, Phelps, Ian G, Arts, Heleen H, Keunen, Jan E, Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B, Neuhauss, Stephan C F, Kremer, Hannie, van Wijk, Erwin

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A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling von Frikstad, Kari-Anne M., Molinari, Elisa, Thoresen, Marianne, Ramsbottom, Simon A., Hughes, Frances, Letteboer, Stef J.F., Gilani, Sania, Schink, Kay O., Stokke, Trond, Geimer, Stefan, Pedersen, Lotte B., Giles, Rachel H., Akhmanova, Anna, Roepman, Ronald, Sayer, John A., Patzke, Sebastian

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A defective structural zipper in photoreceptors causes inherited blindness von Siebren Faber, Ronald Roepman

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Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis von Garanto, Alejandro, van Beersum, Sylvia E C, Peters, Theo A, Roepman, Ronald, Cremers, Frans P M, Collin, Rob W J

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Novel GANAB variants associated with polycystic liver disease von van de Laarschot, Liyanne F. M., te Morsche, Rene H. M., Hoischen, Alexander, Venselaar, Hanka, Roelofs, Hennie M., Cnossen, Wybrich R., Banales, Jesus M., Roepman, Ronald, Drenth, Joost P. H.

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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina von Eblimit, Aiden, Nguyen, Thanh-Minh T, Chen, Yiyun, Esteve-Rudd, Julian, Zhong, Hua, Letteboer, Stef, Van Reeuwijk, Jeroen, Simons, David L, Ding, Qian, Wu, Ka Man, Li, Yumei, Van Beersum, Sylvia, Moayedi, Yalda, Xu, Huidan, Pickard, Patrick, Wang, Keqing, Gan, Lin, Wu, Samuel M, Williams, David S, Mardon, Graeme, Roepman, Ronald, Chen, Rui

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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice von Boldt, Karsten, Mans, Dorus A, Won, Jungyeon, van Reeuwijk, Jeroen, Vogt, Andreas, Kinkl, Norbert, Letteboer, Stef J F, Hicks, Wanda L, Hurd, Ron E, Naggert, Jürgen K, Texier, Yves, den Hollander, Anneke I, Koenekoop, Robert K, Bennett, Jean, Cremers, Frans P M, Gloeckner, Christian J, Nishina, Patsy M, Roepman, Ronald, Ueffing, Marius

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