Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Ka Man Wu"'
Autor:
Emma Dyke, Chantal Bijnagte-Schoenmaker, Ka Man Wu, Astrid Oudakker, Ronald Roepman, Nael Nadif Kasri
Publikováno v:
Stem Cell Research, Vol 68, Iss , Pp 103053- (2023)
NPHP1 (Nephrocystin 1) is a protein that localizes to the transition zone of the cilium, a small organelle that projects from the plasma membrane of most cells and allows for integration and coordination of signalling pathways during development and
Externí odkaz:
https://doaj.org/article/1e5ffa250fcc4687a9f834cf17fa63ed
Autor:
Shan Wang, Jon-Ruben van Rhijn, Ibrahim Akkouh, Naoki Kogo, Nadine Maas, Anna Bleeck, Irene Santisteban Ortiz, Elly Lewerissa, Ka Man Wu, Chantal Schoenmaker, Srdjan Djurovic, Hans van Bokhoven, Tjitske Kleefstra, Nael Nadif Kasri, Dirk Schubert
Publikováno v:
Cell Reports, Vol 39, Iss 5, Pp 110790- (2022)
Summary: Heterozygous loss-of-function (LoF) mutations in SETD1A, which encodes a subunit of histone H3 lysine 4 methyltransferase, cause a neurodevelopmental syndrome and increase the risk for schizophrenia. Using CRISPR-Cas9, we generate excitatory
Externí odkaz:
https://doaj.org/article/e61cbe26e55a4e9dbc5f5c40e739a3d5
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:
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:
Eline J.H. van Hugte, Elly I. Lewerissa, Ka Man Wu, Giulia Parodi, Torben van Voorst, Naoki Kogo, Jason M. Keller, Dirk Schubert, Helenius J. Schelhaas, Judith Verhoeven, Marian Majoie, Hans van Bokhoven, Nael Nadif Kasri
Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioral problems and developmental delay. 80% of Dravet syndrome patients have a mutation inSCN1A, encoding NaV1.1. Milder clinical phenotypes, such as GEFS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abee40546476407d3758aaa160c07d8b
https://doi.org/10.1101/2023.01.11.523598
https://doi.org/10.1101/2023.01.11.523598
Autor:
Shan Wang, Jon-Ruben van Rhijn, Ibrahim Akkouh, Naoki Kogo, Nadine Maas, Anna Bleeck, Irene Santisteban Ortiz, Elly Lewerissa, Ka Man Wu, Chantal Schoenmaker, Srdjan Djurovic, Hans van Bokhoven, Tjitske Kleefstra, Nael Nadif Kasri, Dirk Schubert
Publikováno v:
SSRN Electronic Journal.
SummaryHeterozygous loss-of-function (LoF) mutations in SETD1A, which encodes a subunit of histone H3 lysine 4 methyltransferase, were shown to cause a novel neurodevelopmental syndrome and increase the risk for schizophrenia. We generated excitatory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f209466bcb4485949eee4a5c6ab93f9
https://doi.org/10.2139/ssrn.3956652
https://doi.org/10.2139/ssrn.3956652
Autor:
Heleen H. Arts, Teppo Varilo, Michele Pinelli, K.L.I. van Gassen, Christian Gilissen, Irma Järvelä, Ronald Roepman, Sergio Cocozza, Aki Mustonen, Giovanni Scala, S. Raza, Tuomo Määttä, Anju K. Philips, Ka Man Wu, Jukka S. Moilanen, C.I. de Bie
Publikováno v:
Clinical Genetics. 91:100-105
Intellectual disability (ID) is a major health problem in our society. Genetic causes of ID remain unknown because of its vast heterogeneity. Here we report two Finnish families and one Dutch family with affected individuals presenting with mild to m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17b550bfabac3540b7aa58981de60534
https://doi.org/10.1111/cge.12821
https://doi.org/10.1111/cge.12821
Autor:
Michelle Peckham, Karl Gaff, Alistair Curd, Martijn A. Huynen, Oliver E. Blacque, Ka Man Wu, Colin A. Johnson, Laurence Faivre, Rachel H. Giles, Diane Doummar, Nils J. Lambacher, Tania Attié-Bitach, Lydie Burglen, Gisela G. Slaats, Christel Thauvin-Robinet, Ange-Line Bruel, Gavin J. McManus, Katarzyna Szymanska, Sophie Saunier, Julie Kennedy, Teunis J. P. van Dam, Robin van der Lee, Jean-Baptiste Rivière, Stefanie Kuhns
Publikováno v:
Nature Cell Biology, 18, 122-31
Nature Cell Biology
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. 〈10.1038/ncb3273〉
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. ⟨10.1038/ncb3273⟩
Nature Cell Biology, 18, 1, pp. 122-31
Nature Cell Biology
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. 〈10.1038/ncb3273〉
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. ⟨10.1038/ncb3273⟩
Nature Cell Biology, 18, 1, pp. 122-31
Item does not contain fulltext The transition zone (TZ) ciliary subcompartment is thought to control cilium composition and signalling by facilitating a protein diffusion barrier at the ciliary base. TZ defects cause ciliopathies such as Meckel-Grube
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5843950ab0be0a0ffe94ae9a58df2d06
https://dspace.library.uu.nl/handle/1874/332912
https://dspace.library.uu.nl/handle/1874/332912
Autor:
Machteld M. Oud, C. Anthony Rupar, Victoria Mok Siu, Ronald Roepman, Dorus A. Mans, Alvin Yu Jin Ng, Bruno Reversade, Ascia Eskin, Carine Bonnard, Gregory J. Pazour, Byrappa Venkatesh, Umut Altunoglu, Hane Lee, Nathalie P. de Wagenaar, Heleen H. Arts, Ka Man Wu, Sumanty Tohari, Hülya Kayserili, Robert A. Hegele, Piya Lahiry, Stanley F. Nelson
Publikováno v:
Cilia
Paediatrics Publications
Cilia, 5, pp. 8
Cilia, 5, 8
Paediatrics Publications
Cilia, 5, pp. 8
Cilia, 5, 8
Background: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c63f122c8cfeab1d94756b8fe65aae
https://pubmed.ncbi.nlm.nih.gov/27069622
https://pubmed.ncbi.nlm.nih.gov/27069622
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9648690ddc5f24128e24ac4e0cf2c1
https://pubmed.ncbi.nlm.nih.gov/25398945
https://pubmed.ncbi.nlm.nih.gov/25398945