Zobrazeno 1 - 10
of 238
pro vyhledávání: '"Silvère M. van der Maarel"'
Autor:
Andres Tapia del Fierro, Bianca den Hamer, Natalia Benetti, Natasha Jansz, Kelan Chen, Tamara Beck, Hannah Vanyai, Alexandra D. Gurzau, Lucia Daxinger, Shifeng Xue, Thanh Thao Nguyen Ly, Iromi Wanigasuriya, Megan Iminitoff, Kelsey Breslin, Harald Oey, Yvonne D. Krom, Dinja van der Hoorn, Linde F. Bouwman, Timothy M. Johanson, Matthew E. Ritchie, Quentin A. Gouil, Bruno Reversade, Fabrice Prin, Timothy Mohun, Silvère M. van der Maarel, Edwina McGlinn, James M. Murphy, Andrew Keniry, Jessica C. de Greef, Marnie E. Blewitt
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-22 (2023)
Abstract The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental ta
Externí odkaz:
https://doaj.org/article/4b268abe87144921872eecf80d018c13
Autor:
Darina Šikrová, Alessandra M. Testa, Iris Willemsen, Anita van den Heuvel, Stephen J. Tapscott, Lucia Daxinger, Judit Balog, Silvère M. van der Maarel
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-14 (2023)
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic derepression of the 4q-linked D4Z4 macrosatellite repeat resulting in inappropriate expression of the D4Z4 repeat-encoded DUX4 gene in skeletal muscle. In 5% of FSHD c
Externí odkaz:
https://doaj.org/article/3f6da0dc434b49679a9ffe44070b50bc
Autor:
Jamie L. Lim, Roy Augustinus, Jaap J. Plomp, Kasra Roya-Kouchaki, Dana L. E. Vergoossen, Yvonne Fillié-Grijpma, Josephine Struijk, Rachel Thomas, Daniela Salvatori, Christophe Steyaert, Christophe Blanchetot, Roeland Vanhauwaert, Karen Silence, Silvère M. van der Maarel, Jan J. Verschuuren, Maartje G. Huijbers
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Muscle-specific kinase (MuSK) is crucial for acetylcholine receptor (AChR) clustering and thereby neuromuscular junction (NMJ) function. NMJ dysfunction is a hallmark of several neuromuscular diseases, including MuSK myasthenia gravis. Aimin
Externí odkaz:
https://doaj.org/article/773f61341607498fb5e4068db23c08e5
Autor:
Andrew A. Smith, Yee Nip, Sean R. Bennett, Danielle C. Hamm, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Manu Setty, Silvère M. van der Maarel, Stephen J. Tapscott
Publikováno v:
Cell Reports, Vol 42, Iss 9, Pp 113114- (2023)
Summary: The transcription factor DUX4 regulates a portion of the zygotic gene activation (ZGA) program in the early embryo. Many cancers express DUX4 but it is unknown whether this generates cells similar to early embryonic stem cells. Here we ident
Externí odkaz:
https://doaj.org/article/70fb10c8f7de409fa807c206d67c1199
Autor:
Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini
Publikováno v:
Biomolecules, Vol 13, Iss 11, p 1567 (2023)
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. In
Externí odkaz:
https://doaj.org/article/4ceed51d35294359b85fc944f493cbbf
Autor:
Anita van den Heuvel, Saskia Lassche, Karlien Mul, Anna Greco, David San León Granado, Arend Heerschap, Benno Küsters, Stephen J. Tapscott, Nicol C. Voermans, Baziel G. M. van Engelen, Silvère M. van der Maarel
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-18 (2022)
Abstract With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important. Considering the spatiotemporal nature of FSHD disease activity, clinical t
Externí odkaz:
https://doaj.org/article/57f2734de5df4b63b76dcb2ef71b6ffa
Autor:
Linde F. Bouwman, Bianca den Hamer, Anita van den Heuvel, Marnix Franken, Michaela Jackson, Chrissa A. Dwyer, Stephen J. Tapscott, Frank Rigo, Silvère M. van der Maarel, Jessica C. de Greef
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 813-827 (2021)
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent skeletal muscle dystrophies. Skeletal muscle pathology in individuals with FSHD is caused by inappropriate expression of the transcription factor DUX4, which activates differe
Externí odkaz:
https://doaj.org/article/72b1e161cd6e4f43899a64fac88d86d4
Autor:
Remko Goossens, Mara S. Tihaya, Anita van den Heuvel, Klorane Tabot-Ndip, Iris M. Willemsen, Stephen J. Tapscott, Román González-Prieto, Jer-Gung Chang, Alfred C. O. Vertegaal, Judit Balog, Silvère M. van der Maarel
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Structural Maintenance of Chromosomes Hinge Domain Containing 1 (SMCHD1) is a chromatin repressor, which is mutated in > 95% of Facioscapulohumeral dystrophy (FSHD) type 2 cases. In FSHD2, SMCHD1 mutations ultimately result in the presence o
Externí odkaz:
https://doaj.org/article/3787795da37d4682892b5d58f40c3528
Autor:
Christoph Dumke, Timo Gemoll, Martina Oberländer, Sandra Freitag-Wolf, Christoph Thorns, Axel Glaessgen, Rinse Klooster, Silvère M. van der Maarel, Jerker Widengren, Christian Doehn, Gert Auer, Jens K. Habermann
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Current prostate cancer risk classifications rely on clinicopathological parameters resulting in uncertainties for prognostication. To improve individual risk stratification, we examined the predictive value of selected proteins with respect
Externí odkaz:
https://doaj.org/article/68a3591cd68b4f21a9b0964e6eb15294
Autor:
Darina Šikrová, Vlad A. Cadar, Yavuz Ariyurek, Jeroen F.J. Laros, Judit Balog, Silvère M. van der Maarel
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 342-354 (2021)
Facioscapulohumeral muscular dystrophy (FSHD) is caused by chromatin relaxation of the D4Z4 repeat resulting in misexpression of the D4Z4-encoded DUX4 gene in skeletal muscle. One of the key genetic requirements for the stable production of full-leng
Externí odkaz:
https://doaj.org/article/338949a597644df7ae79a0cebc8bc7e7