Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Jessica C de Greef"'
Autor:
Stijn L. M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W. W. M. Pim Pijnappel
Publikováno v:
Skeletal Muscle, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Background Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. However, due to the inherent genetic heterogeneity among human individuals, it is often difficult to distinguish
Externí odkaz:
https://doaj.org/article/86c5be4ccc1e41ddbe14d9bb2d7fbe09
Autor:
Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori
Publikováno v:
PLoS Genetics, Vol 5, Iss 7, p e1000559 (2009)
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4
Externí odkaz:
https://doaj.org/article/79fbf42c8f214f03adcf8266e53ad4ab
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:
Cyriel Sebastiaan Olie, Adán Pinto-Fernández, Andreas Damianou, Iolanda Vendrell, Hailiang Mei, Bianca den Hamer, Erik van der Wal, Jessica C. de Greef, Vered Raz, Benedikt M. Kessler
Publikováno v:
Cell Death and Disease, Vol 14, Iss 3, Pp 1-15 (2023)
Highlights USP18 knockdown results in transcriptome-wide changes that cause a switch from proliferation to muscle cell differentiation. Fully differentiated muscles cells (or simply 'myotubes') formed in absence of USP18 lack sarcomeric integrity (in
Externí odkaz:
https://doaj.org/article/8d19ab658f194248818eb77837dc5889
Autor:
Cyriel Sebastiaan Olie, Erik van der Wal, Domagoj Cikes, Loes Maton, Jessica C. de Greef, I.-Hsuan Lin, Yi-Fan Chen, Elsayad Kareem, Josef M. Penninger, Benedikt M. Kessler, Vered Raz
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Abstract Muscle wasting and atrophy are regulated by multiple molecular processes, including mRNA processing. Reduced levels of the polyadenylation binding protein nucleus 1 (PABPN1), a multifactorial regulator of mRNA processing, cause muscle atroph
Externí odkaz:
https://doaj.org/article/5497c8bf6d1a4c32971b13c8be8a8ca1
Autor:
Mara S. Tihaya, Karlien Mul, Judit Balog, Jessica C. de Greef, Stephen J. Tapscott, Rabi Tawil, Jeffrey M. Statland, Silvère M. van der Maarel
Publikováno v:
Nature Reviews. Neurology, 19, 2, pp. 91-108
Nature Reviews. Neurology, 19, 91-108
Nature Reviews. Neurology, 19, 91-108
Item does not contain fulltext Advances in the molecular understanding of facioscapulohumeral muscular dystrophy (FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in skeletal muscle, which encodes a transcription f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7a86792a8d48d0b06e3f18a2b657efa
https://hdl.handle.net/2066/291173
https://hdl.handle.net/2066/291173
Autor:
Jeroen M. Stein, Ulgu Arslan, Marnix Franken, Jessica C. de Greef, Sian E. Harding, Neda Mohammadi, Valeria V. Orlova, Milena Bellin, Christine L. Mummery, Berend J. van Meer
Publikováno v:
Current Protocols, 2(7):e462. Wiley
Sarcomeres are the structural units of the contractile apparatus in cardiac and skeletal muscle cells. Changes in sarcomere characteristics are indicative of changes in the sarcomeric proteins and function during development and disease. Assessment o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91393af88df7841738d89ad1195777dd
https://doi.org/10.1002/cpz1.462
https://doi.org/10.1002/cpz1.462
Autor:
Cyriel Sebastiaan Olie, Adán Pinto-Fernández, Andreas Damianou, Iolanda Vendrell, Hailiang Mei, Bianca den Hamer, Erik van der Wal, Jessica C. de Greef, Eleonora Aronica, Vered Raz, Benedikt M. Kessler
The ubiquitin proteasomal system is a critical regulator of muscle physiology and impaired UPS is key in many muscle pathologies. Yet, little is known about the function of deubiquitinating enzymes (DUBs) in the muscle cell context. We performed a ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f46a3dfc3f9911cd972d605b6d40e4d
https://doi.org/10.1101/2022.04.01.486741
https://doi.org/10.1101/2022.04.01.486741
Autor:
Bianca den Hamer, Jessica C. de Greef, Lente J. S. Lerink, Elwin P. Verveer, Silvère M. van der Maarel, Linde F. Bouwman, Yvonne D. Krom
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-15 (2020)
Skeletal Muscle
Skeletal Muscle, 10(1). BMC
Skeletal Muscle
Skeletal Muscle, 10(1). BMC
Background Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle cells. Apart from SMCHD1, DNMT3B was recently identified as a disease gene and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fad22df7a79248b256e966bd65d3582
http://link.springer.com/article/10.1186/s13395-020-00247-0
http://link.springer.com/article/10.1186/s13395-020-00247-0
Autor:
Sujatha Jagannathan, Jessica C. de Greef, Lawrence J. Hayward, Kyoko Yokomori, Davide Gabellini, Karlien Mul, Sabrina Sacconi, Jamshid Arjomand, June Kinoshita, Scott Q. Harper
Publikováno v:
Skeletal Muscle, 12, 1
Skeletal Muscle, 12(1). BMC
Skeletal Muscle, 12
Skeletal Muscle, Vol 12, Iss 1, Pp 1-10 (2022)
Skeletal Muscle
Skeletal Muscle, 12(1). BMC
Skeletal Muscle, 12
Skeletal Muscle, Vol 12, Iss 1, Pp 1-10 (2022)
Skeletal Muscle
Contains fulltext : 248870.pdf (Publisher’s version ) (Open Access) Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63514b3cc448de1ac64e32cdada17e89
https://hdl.handle.net/2066/248870
https://hdl.handle.net/2066/248870