Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Machteld M, Oud"'
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Background: Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short limbs, narrow thorax, brachydactyly, ectodermal abnormalities, and renal insufficien
Externí odkaz:
https://doaj.org/article/0e0d5cf622d04179ab39c703254bd1dc
Autor:
Elise A. Ferreira, Mark J. N. Buijs, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Machteld M. Oud, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Background/ObjectivesThe timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are different from
Externí odkaz:
https://doaj.org/article/c44c3636bfe843e397324a3fa470aac2
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Externí odkaz:
https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d
Autor:
Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearan
Externí odkaz:
https://doaj.org/article/3a057c1244e44416b324608e85beb311
Autor:
Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role
Externí odkaz:
https://doaj.org/article/8c594ab0c7de47199c4d3dccb48830a8
Autor:
F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan
Publikováno v:
Undiagnosed Diseases Network 2023, ' Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis ', American journal of human genetics, vol. 110, no. 4, pp. 663-680 . https://doi.org/10.1016/j.ajhg.2023.03.001
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
Item does not contain fulltext The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, whi
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:
Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
Nephronophthisis (NPH) is the most common monogenic cause of renal failure in children. Treatment options are limited to dialysis and transplantation. Therapeutics to significantly delay or prevent end-stage renal disease (ESRD) in children are curre
Externí odkaz:
https://doaj.org/article/590e498d10ab4fd8b983ff27a9f4a513
Autor:
Ronald van Beek, Dorien Lugtenberg, Cenna Doornbos, Machteld M. Oud, Ronald Roepman, Lisenka E.L.M. Vissers, Peter H.M. Klaren, Ernie M.H.F. Bongers
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 29, 1677-1689
European Journal of Human Genetics, 29, pp. 1677-1689
European Journal of Human Genetics, 29, 1677-1689
European Journal of Human Genetics, 29, pp. 1677-1689
Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell. This group of disorders is marked by genetic and clinical heterogeneity, which complicates accura