Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Thanh Minh T. Nguyen"'
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:
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new in
Externí odkaz:
https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0
Autor:
Yumei Li, Paul A. Overbeek, Rui Chen, Graeme Mardon, Feng He, Theodore G. Wensel, Antrix Jain, Zhixian Zhang, Michael A. Robichaux, Thanh-Minh T. Nguyen, Ronald Roepman, Aiden Eblimit, Sung Yun Jung, Jun Qin, Rachayata Dharmat
Publikováno v:
Journal of Cell Biology, 217, 2851-2865
Journal of Cell Biology, 217, 8, pp. 2851-2865
The Journal of Cell Biology
Journal of Cell Biology, 217, 8, pp. 2851-2865
The Journal of Cell Biology
The connecting cilium (CC) of photoreceptor cells is considered analogous to the primary cilium transition zone (TZ). Dharmat et al. identify two subzones within the CC: the TZ-like posterior CC and a novel photoreceptor-specific zone in the distal C
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
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
Autor:
Helger G. Yntema, Erwin van Wijk, Ellen A.W. Blokland, Frans P.M. Cremers, Lisette Hetterschijt, Erik de Vrieze, Sarah Hull, Ronald Roepman, Gavin Arno, Thanh-Minh T. Nguyen, Lonneke Haer-Wigman, Paul A. van der Zwaag, Andrew R. Webster, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, L. Ingeborgh van den Born
Publikováno v:
Journal of Medical Genetics, 54, 624-632
Journal of Medical Genetics, 54, 9, pp. 624-632
JOURNAL OF MEDICAL GENETICS, 54(9), 624-632. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 54, 9, pp. 624-632
JOURNAL OF MEDICAL GENETICS, 54(9), 624-632. BMJ PUBLISHING GROUP
Contains fulltext : 177221.pdf (Publisher’s version ) (Open Access) BACKGROUND: Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a38b581f344c7c748742a9c486834198
http://hdl.handle.net/2066/177221
http://hdl.handle.net/2066/177221
Autor:
Thanh-Minh T, Nguyen, Sarah, Hull, Ronald, Roepman, L Ingeborgh, van den Born, Machteld M, Oud, Erik, de Vrieze, Lisette, Hetterschijt, Stef J F, Letteboer, Sylvia E C, van Beersum, Ellen A, Blokland, Helger G, Yntema, Frans P M, Cremers, Paul A, van der Zwaag, Gavin, Arno, Erwin, van Wijk, Andrew R, Webster, Lonneke, Haer-Wigman
Publikováno v:
Journal of Medical Genetics
Background Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1
Autor:
Julian Esteve-Rudd, Stef J.F. Letteboer, Graeme Mardon, Yalda Moayedi, Huidan Xu, Thanh Minh T. Nguyen, Yumei Li, Aiden Eblimit, David L. Simons, Ronald Roepman, Ka Man Wu, Samuel M. Wu, Rui Chen, David S. Williams, Lin Gan, Sylvia E. C. van Beersum, Yiyun Chen, Qian Ding, Hua Zhong, Patrick Pickard, Jeroen van Reeuwijk, Keqing Wang
Publikováno v:
Human Molecular Genetics, 24, 6, pp. 1584-601
Human molecular genetics, vol 24, iss 6
Human Molecular Genetics, 24, 1584-601
Human molecular genetics, vol 24, iss 6
Human Molecular Genetics, 24, 1584-601
Item does not contain fulltext Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in infants and children. SPATA7 has recently been identified as the LCA3 and juvenile
Autor:
Detlef Bockenhauer, Valeska Frank, Jan Halbritter, Albrecht Kramer-Zucker, Edgar A. Otto, Gerd Walz, Marius Ueffing, Emilie Filhol, Daniel Epting, Friedhelm Hildebrandt, Nicola Horn, Søren Rittig, Troels Ring, Martin Helmstädter, Christoph Schell, Mariet W. Elting, Mogens Vyberg, Tobias B. Huber, Martin Pohl, Florian Grahammer, Jeroen van Reeuwijk, Sophie Saunier, Karsten Boldt, Christopher Boehlke, Sylvia Hoff, Neveen A. Soliman Elshakhs, Ronald Roepman, Thomas J. Neuhaus, E. Wolfgang Kuehn, Miriam Mergen, Soeren S. Lienkamp, Sarah J. Koon, Neil J. Sebire, Hanno J. Bolz, Tobias Eisenberger, Lars Pape, Thanh-Minh T. Nguyen, Takayuki Yasunaga, Joanna A.E. van Wijk, Peter C. Harris, Carsten Bergmann
Publikováno v:
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-6 . https://doi.org/10.1038/ng.2681
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45, 951-956
Nature genetics
Nature Genetics, 45, 8, pp. 951-956
Nature Genetics; Vol 45
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstadter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45(8), 951-956. Nature Publishing Group
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45, 951-956
Nature genetics
Nature Genetics, 45, 8, pp. 951-956
Nature Genetics; Vol 45
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstadter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45(8), 951-956. Nature Publishing Group
Item does not contain fulltext Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. Most NPHP gene products form molecular networks. Here we identify ANKS6 as a new NPHP family memb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0647cda9c861220e3ca77e45ab6d84b
https://pure.au.dk/portal/da/publications/anks6-is-a-central-component-of-a-nephronophthisis-module-linking-nek8-to-invs-and-nphp3(39dd210e-b4f2-4673-ac75-b0f585838b82).html
https://pure.au.dk/portal/da/publications/anks6-is-a-central-component-of-a-nephronophthisis-module-linking-nek8-to-invs-and-nphp3(39dd210e-b4f2-4673-ac75-b0f585838b82).html
Autor:
S.E.C. van Beersum, Jason R. Willer, Marius Ueffing, Karsten Boldt, Konstantinos Koutroumpas, Ronald Roepman, François Képès, Robert B. Russell, Thanh Minh T. Nguyen, Nicholas Katsanis, Yves Texier, J. van Reeuwijk, Nicola Horn, Qianhao Lu
Publikováno v:
Cilia
Objective Mutations in different ciliopathy-associated genes often result in overlapping clinical phenotypes, which can in part be explained by disruption of overlapping functional protein modules. In this study we conducted large-scale affinity prot