Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Mans, Dorus"'
Publikováno v:
In BBA - Reviews on Cancer 2008 1786(2):114-125
Akademický článek
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Autor:
Boldt, Karsten, van Reeuwijk, Jeroen, Dougherty, Gerard, Lamers, Ideke J C, Coene, Karlien L M, Arts, Heleen H, Betts, Matthew J, Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Lu, Qianhao, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J F, Marcelis, Carlo L, Mitic, Dragana, Morleo, Manuela, Oud, Machteld M, Koutroumpas, Konstantinos, Riemersma, Moniek, Rix, Susan, Terhal, Paulien A, Toedt, Grischa, van Dam, Teunis J P, de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L, Nguyen, Thanh-Minh T, Blacque, Oliver E, Gibson, Toby J, Huynen, Martijn A, Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E, Texier, Yves, Franco, Brunella, Giles, Rachel H, Ueffing, Marius, Russell, Robert B, Roepman, Ronald, Group, UK10K Rare Diseases, Al-Turki, Saeed, Anderson, Carl, Antony, Dinu, Barroso, Inês, van Beersum, Sylvia E C, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Danecek, Petr, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Horn, Nicola, Reghan Foley, A., Franklin, Chris, Futema, Marta, Humphries, Steve E, Hurles, Matt, Joyce, Chris, McCarthy, Shane, Mitchison, Hannah M, Muddyman, Dawn, Muntoni, Francesco, Willer, Jason R, O'Rahilly, Stephen, Onoufriadis, Alexandros, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B, Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert, Mans, Dorus A, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Whittall, Ros, Williamson, Kathy
Publikováno v:
Nature Communications 7(1), 11491 (2016). doi:10.1038/ncomms11491
Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T M T, Texier, Y, Van Beersum, S E C, Horn, N, Willer, J R, Mans, D A, Dougherty, G, Lamers, I J C, Coene, K L M, Arts, H H, Betts, M J, Beyer, T, Bolat, E, Gloeckner, C J, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, S J F, Marcelis, C L, Mitic, D, Morleo, M, Oud, M M, Riemersma, M, Rix, S, Terhal, P A, Toedt, G, Van Dam, T J P, De Vrieze, E, Wissinger, Y, Wu, K M, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A R, Franklin, C, Futema, M, Humphries, S E, Hurles, M, Joyce, C, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, Van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K, Apic, G, Beales, P L, Blacque, O E, Gibson, T J, Huynen, M A, Katsanis, N, Kremer, H, Omran, H, Van Wijk, E, Wolfrum, U, Kepes, F, Davis, E E, Franco, B, Giles, R H, Ueffing, M, Russell, R B & Roepman, R 2016, ' An organelle-specific protein landscape identifies novel diseases and molecular mechanisms ', Nature Communications, vol. 7, 11491 . https://doi.org/10.1038/ncomms11491
Nat. Commun. 7:11491 (2016)
Nature Communications
Nature Communications, 7, 11491-11491
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications, 7, pp. 11491-11491
Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T M T, Texier, Y, Van Beersum, S E C, Horn, N, Willer, J R, Mans, D A, Dougherty, G, Lamers, I J C, Coene, K L M, Arts, H H, Betts, M J, Beyer, T, Bolat, E, Gloeckner, C J, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, S J F, Marcelis, C L, Mitic, D, Morleo, M, Oud, M M, Riemersma, M, Rix, S, Terhal, P A, Toedt, G, Van Dam, T J P, De Vrieze, E, Wissinger, Y, Wu, K M, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A R, Franklin, C, Futema, M, Humphries, S E, Hurles, M, Joyce, C, McCarthy, S, Mitchison, H M, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, D B, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, Van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K, Apic, G, Beales, P L, Blacque, O E, Gibson, T J, Huynen, M A, Katsanis, N, Kremer, H, Omran, H, Van Wijk, E, Wolfrum, U, Kepes, F, Davis, E E, Franco, B, Giles, R H, Ueffing, M, Russell, R B & Roepman, R 2016, ' An organelle-specific protein landscape identifies novel diseases and molecular mechanisms ', Nature Communications, vol. 7, 11491 . https://doi.org/10.1038/ncomms11491
Nat. Commun. 7:11491 (2016)
Nature Communications
Nature Communications, 7, 11491-11491
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications, 7, pp. 11491-11491
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed822a01064aab67a40c84234dc2fc74
https://pub.dzne.de/record/138561
https://pub.dzne.de/record/138561
Autor:
Lolkema, Martijn P.1, Mans, Dorus A.1, Ulfman, Laurien H.2, Volpi, Stefano1,3, Voest, Emile E.1, Giles, Rachel H.1,3 r.giles@umcutrecht.nl
Publikováno v:
European Journal of Human Genetics. Jan2008, Vol. 16 Issue 1, p73-78. 6p. 1 Diagram, 2 Graphs.
Akademický článek
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Autor:
Mans, Dorus A, Vermaat, Joost S, Weijts, Bart G, van Rooijen, Ellen, van Reeuwijk, Jeroen, Boldt, Karsten, Daenen, Laura GM, van der Groep, Petra, Rowland, Benjamin D, Jans, Judith J, Roepman, Ronald, Voest, Emile E, van Diest, Paul J, Verhaar, Marianne C, de Bruin, Alain, Giles, Rachel H
Publikováno v:
The Journal of Pathology; Vol 231
Akademický článek
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Autor:
Oud, Machteld, Bonnard, Carine, Mans, Dorus, Altunoglu, Umut, Sumanty Tohari, Ng, Alvin, Ascia Eskin, Lee, Hane, C. Rupar, Wagenaar, Nathalie, Wu, Ka, Piya Lahiry, Pazour, Gregory, Nelson, Stanley, Hegele, Robert, Roepman, Ronald, HĂźlya Kayserili, Byrappa Venkatesh, Siu, Victoria, Reversade, Bruno, Arts, Heleen
Additional file 5: Figure S3. Different classes of ciliary phenotypes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc598e7379ea4e406a358e2a35c0c19
Autor:
Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A, Szymanska, Katarzyna, Nguyen, Thanh-Minh T, Racher, Hilary, Phelps, Ian G, Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A, Sorusch, Nasrin, Abdelhamed, Zakia A, Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A, Letteboer, Stef J F, Roosing, Susanne, Adams, Matthew, Bell, Sandra M, Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E, Tomlinson, Darren C, Slaats, Gisela G, van Dam, Teunis J P, Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V, Boyle, Evan A, Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A, Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A, Chodirker, Bernard N, Chudley, Albert E, Lamont, Ryan, Bernier, Francois P, Beaulieu, Chandree L, Gordon, Paul, Pon, Richard T, Donahue, Clem, Giles, Rachel H, UK10K Consortium
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a globa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10691::f3fd7dafc78123d6256feba30d6330af
https://dspace.library.uu.nl/handle/1874/332913
https://dspace.library.uu.nl/handle/1874/332913
Autor:
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.
Publikováno v:
Nature Communications
Nature Communications, 6, pp. 7074
Nature Communications, 6, 7074
Nature Communications, 6, pp. 7074
Nature Communications, 6, 7074
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune