CiliaCarta: An integrated and validated compendium of ciliary genes
van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, François, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A
Published in PloS one (16.05.2019)
Published in PloS one (16.05.2019)
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Journal Article
Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations
Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Krieger, Elmar, Ferreira, Paulo A., Frans P. M. Cremers, Nathans, Jeremy
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2005)
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Journal Article
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain
Cevik, Sebiha, Sanders, Anna A W M, Van Wijk, Erwin, Boldt, Karsten, Clarke, Lara, van Reeuwijk, Jeroen, Hori, Yuji, Horn, Nicola, Hetterschijt, Lisette, Wdowicz, Anita, Mullins, Andrea, Kida, Katarzyna, Kaplan, Oktay I, van Beersum, Sylvia E C, Man Wu, Ka, Letteboer, Stef J F, Mans, Dorus A, Katada, Toshiaki, Kontani, Kenji, Ueffing, Marius, Roepman, Ronald, Kremer, Hannie, Blacque, Oliver E
Published in PLoS genetics (01.12.2013)
Published in PLoS genetics (01.12.2013)
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Journal Article
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Journal Article
Mutations in LCA5 , encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Mohamed, Moin D, Wolfrum, Uwe, Kersten, Ferry F J, Rashid, Yasmin, Arts, Heleen H, van Beersum, Sylvia E C, Ueffing, Marius, Boldt, Karsten, Lopez, Irma, Towns, Katherine V, Woods, C Geoff, McKibbin, Martin, Dharmaraj, Sharola, van Wijk, Erwin, Williams, Grange A, Maumenee, Irene H, Inglehearn, Chris F, Nagel-Wolfrum, Kerstin, Veltman, Joris A, Beer, Monika, Gosens, Ilse, Springell, Kelly, Roepman, Ronald, Ivings, Lenka, Strom, Tim M, Zonneveld, Marijke N, Koenekoop, Robert K, Sedmak, Tina, Jafri, Hussain, van der Zwaag, Bert, Cheetham, Michael E, Cremers, Frans P M, den Hollander, Anneke I
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Journal Article
PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia
Faber, Siebren, Letteboer, Stef J F, Junger, Katrin, Butcher, Rossano, Tammana, Trinadh V Satish, van Beersum, Sylvia E C, Ueffing, Marius, Collin, Rob W J, Liu, Qin, Boldt, Karsten, Roepman, Ronald
Published in Cells (Basel, Switzerland) (01.01.2023)
Published in Cells (Basel, Switzerland) (01.01.2023)
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Journal Article
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
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
Published in PLoS genetics (01.10.2015)
Published in PLoS genetics (01.10.2015)
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Journal Article
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., van Beersum, Sylvia E.C., Mans, Dorus A., Hikida, Abigail, Eckert, Melissa, Knutzen, Dana, Alswaid, Abdulrahman F., Özyurek, Hamit, Dibooglu, Sel, Otto, Edgar A., Liu, Yangfan, Davis, Erica E., Hutter, Carolyn M., Bammler, Theo K., Farin, Frederico M., Dorschner, Michael, Topçu, Meral, Zackai, Elaine H., Rosenthal, Phillip, Owens, Kelly N., Katsanis, Nicholas, Vincent, John B., Hildebrandt, Friedhelm, Rubel, Edwin W., Raible, David W., Knoers, Nine V.A.M., Chance, Phillip F., Roepman, Ronald, Moens, Cecilia B., Glass, Ian A., Doherty, Dan
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
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Journal Article
A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome
Aslanyan, Mariam G, Doornbos, Cenna, Diwan, Gaurav D, Anvarian, Zeinab, Beyer, Tina, Junger, Katrin, van Beersum, Sylvia E C, Russell, Robert B, Ueffing, Marius, Ludwig, Alexander, Boldt, Karsten, Pedersen, Lotte B, Roepman, Ronald
Published in Frontiers in cell and developmental biology (26.01.2023)
Published in Frontiers in cell and developmental biology (26.01.2023)
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Journal Article
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish
Dona, Margo, Bachmann-Gagescu, Ruxandra, Texier, Yves, Toedt, Grischa, Hetterschijt, Lisette, Tonnaer, Edith L, Peters, Theo A, van Beersum, Sylvia E C, Bergboer, Judith G M, Horn, Nicola, de Vrieze, Erik, Slijkerman, Ralph W N, van Reeuwijk, Jeroen, Flik, Gert, Keunen, Jan E, Ueffing, Marius, Gibson, Toby J, Roepman, Ronald, Boldt, Karsten, Kremer, Hannie, van Wijk, Erwin
Published in PLoS genetics (01.10.2015)
Published in PLoS genetics (01.10.2015)
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Journal Article
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation
Corral-Serrano, Julio C., Lamers, Ideke J. C., van Reeuwijk, Jeroen, Duijkers, Lonneke, Hoogendoorn, Anita D. M., Yildirim, Adem, Argyrou, Nikoleta, Ruigrok, Renate A. A., Letteboer, Stef J. F., Butcher, Rossano, van Essen, Max D., Sakami, Sanae, van Beersum, Sylvia E. C., Palczewski, Krzysztof, Cheetham, Michael E., Liu, Qin, Boldt, Karsten, Wolfrum, Uwe, Ueffing, Marius, Garanto, Alejandro, Roepman, Ronald, Collin, Rob W. J.
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2020)
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Journal Article
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Latour, Brooke L, Van De Weghe, Julie C, Rusterholz, Tamara Ds, Letteboer, Stef Jf, Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E, van Reeuwijk, Jeroen, van Beersum, Sylvia Ec, Miller, Caitlin V, Dempsey, Jennifer C, Morsy, Heba, Bamshad, Michael J, Nickerson, Deborah A, Neuhauss, Stephan Cf, Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A, Alkuraya, Fowzan S, Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan
Published in The Journal of clinical investigation (01.08.2020)
Published in The Journal of clinical investigation (01.08.2020)
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Journal Article
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
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
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Journal Article
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
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Journal Article
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald
Published in Journal of medical genetics (01.06.2011)
Published in Journal of medical genetics (01.06.2011)
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Journal Article
The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function
Lokaj, Mandy, Kösling, Stefanie K., Koerner, Carolin, Lange, Sven M., van Beersum, Sylvia E.C., van Reeuwijk, Jeroen, Roepman, Ronald, Horn, Nicola, Ueffing, Marius, Boldt, Karsten, Wittinghofer, Alfred
Published in Structure (London) (03.11.2015)
Published in Structure (London) (03.11.2015)
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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation
van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.
Published in American journal of human genetics (01.09.2001)
Published in American journal of human genetics (01.09.2001)
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Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M., Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M., Witman, George B.
Published in Nature communications (29.03.2016)
Published in Nature communications (29.03.2016)
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Altered Regulation of Platelet-Derived Growth Factor receptor-α Gene-Transcription in vitro by Spina Bifida-Associated Mutant Pax1 Proteins
Paul H. L. J. Joosten, Hol, Frans A., Sylvia E. C. Van Beersum, Peters, Heiko, Ben C. J. Hamel, Afink, Gijs B., Everardus J. J. Van Zoelen, Edwin C. M. Mariman
Published in Proceedings of the National Academy of Sciences - PNAS (24.11.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (24.11.1998)
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