Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Dorus A Mans"'
Autor:
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliar
Externí odkaz:
https://doaj.org/article/206fb09f592a41a7979de76d71996765
Autor:
Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome seque
Externí odkaz:
https://doaj.org/article/5d530776325f402694439d56dd8f1977
Autor:
Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk
Publikováno v:
PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of extra-cellular signals to the cell. This function requires the concentration of receptors and chan
Externí odkaz:
https://doaj.org/article/08a6b296c08e4098b69576d26dadd7af
Autor:
Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque
Publikováno v:
PLoS Genetics, Vol 9, Iss 12, p e1003977 (2013)
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ
Externí odkaz:
https://doaj.org/article/566785b284434b95974086b530bbc77f
Autor:
Gerard W. Dougherty, Victor L. Jensen, Jan Frederik Scheel, Katarzyna Szymanska, Uwe Wolfrum, Radek Szklarczyk, Miriam Schmidts, Julie Kennedy, Erwin van Wijk, Brunella Franco, Toby J. Gibson, Machteld M. Oud, Chunmei Li, Nils J. Lambacher, Erik de Vrieze, Grischa Toedt, Teunis J. P. van Dam, Karsten Boldt, Heymut Omran, Yves Texier, Rachel H. Giles, Ronald Roepman, Kirsten A. Wunderlich, Sylvia E. C. van Beersum, Oliver E. Blacque, Thanh-Minh T. Nguyen, Konstantinos Koutroumpas, Hannie Kremer, Nicola Horn, Martijn A. Huynen, Michel R. Leroux, Gabrielle Wheway, Rim Hjeij, Philip L. Beales, Gisela G. Slaats, Robert B. Russell, Robin van der Lee, François Képès, Yasmin Wissinger, Barbara Knapp, Dorus A. Mans, Suzanne Rix, Marius Ueffing, Colin A. Johnson, Stef J.F. Letteboer, Victor Hernandez-Hernandez, Qianhao Lu, Jeroen van Reeuwijk
Publikováno v:
PLoS ONE
PLoS One, 14
PLoS One. Public Library of Science
PloS one
PLOS ONE
PLOS ONE, 14(5):0216705. Public Library of Science
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
PLoS One, 14, 5
PLoS One, 14
PLoS One. Public Library of Science
PloS one
PLOS ONE
PLOS ONE, 14(5):0216705. Public Library of Science
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
PLoS One, 14, 5
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2772a70100890267dc91fbed9c4e654e
http://europepmc.org/articles/PMC6522010
http://europepmc.org/articles/PMC6522010
Autor:
Ibrahim A. Abu Zahira, Stef J.F. Letteboer, Azaria J.J.T. Rein, Alaa Darwish, Zeev Perles, Asaf Ta-Shma, Ronald Roepman, Sabrina Spittler, Avraham Shaag, Christine Edelbusch, Petra Pennekamp, Israel Amirav, Heike Olbrich, Dorus A. Mans, Alper Gezdirici, Nael Elias, Sandra Cindric, Oded Breuer, Miriam Schmidts, Isabella Aprea, Rim Hjeij, Tabea Nöthe-Menchen, Dinu Antony, Heymut Omran, Friederike Stuhlmann, Elif Yilmaz Gulec, Niki T. Loges, Orly Elpeleg, Gerard W. Dougherty, Revital Abitbul
Publikováno v:
Plos Genetics, 14, e1007602
Plos Genetics, 14, 8, pp. e1007602
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
PLOS Genetics
Plos Genetics, 14, 8, pp. e1007602
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
PLOS Genetics
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe64d6fb5637d4db8aa4ab09c5ca0dd
http://hdl.handle.net/2066/196394
http://hdl.handle.net/2066/196394
Autor:
Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer
Publikováno v:
Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group
Item does not contain fulltext 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 pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f0b712fcab169cef607b95c1a1e715
https://doi.org/10.1038/ncb3201
https://doi.org/10.1038/ncb3201
Autor:
Liyanne F.M. van de Laarschot, Rene H. M. te Morsche, Edgar S Wills, Nicola Horn, Marius Ueffing, Karsten Boldt, Dorus A. Mans, Ronald Roepman, Joost P.H. Drenth, Iris Geomini, Jeroen van Reeuwijk
Publikováno v:
Human Molecular Genetics, 26, 21, pp. 4190-4202
Human Molecular Genetics, 26, 4190-4202
Human Molecular Genetics, 26, 4190-4202
Item does not contain fulltext Mutations in the PRKCSH, SEC63 and LRP5 genes cause autosomal dominant polycystic liver disease (ADPLD). The proteins products of PRKCSH (alias GIIB) and SEC63 function in protein quality control and processing in the e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9edac2b4fa6a4426659edd9e5a0b7252
https://hdl.handle.net/2066/182793
https://hdl.handle.net/2066/182793
Autor:
Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10K, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-1 (2016)
Nature Communications 6: Article number:7074 (2015); Published: 05 June 2015; Updated: 29 Marrch 2016 The financial support for this article was not fully acknowledged. The Acknowledgements should have included the following: PLB was supported by the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51bcbad0b94e0ad65dd36f311ecbee9
https://doi.org/10.1038/ncomms11270
https://doi.org/10.1038/ncomms11270
Autor:
Ronald Roepman, Anneke I. den Hollander, Frans P.M. Cremers, Alejandro Estrada-Cuzcano, Dorus A. Mans
Publikováno v:
Human Molecular Genetics; Vol 21
Human Molecular Genetics, 21, R111-24
Human Molecular Genetics, 21, R1, pp. R111-24
Human Molecular Genetics, 21, R111-24
Human Molecular Genetics, 21, R1, pp. R111-24
Item does not contain fulltext Homozygosity mapping and exome sequencing have accelerated the discovery of gene mutations and modifier alleles implicated in inherited retinal degeneration in humans. To date, 158 genes have been found to be mutated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84477097f9acb852bd45ac9204f00e62