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:
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:
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, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the et
Externí odkaz:
https://doaj.org/article/e1293d0484d644569819137cb3f35b3b
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:
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:
Linde F. Bouwman, Bianca den Hamer, Elwin P. Verveer, Lente J. S. Lerink, Yvonne D. Krom, Silvère M. van der Maarel, Jessica C. de Greef
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-15 (2020)
Abstract 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 g
Externí odkaz:
https://doaj.org/article/ba798b1091674f86b941e26c8bfec8da
Autor:
Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds, Annemieke Aartsma-Rus, James Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are characterized by loss of muscle tissue associated with a progressive reduction in muscle function. With a cure lacking for MDs, preclinical developments of therapeuti
Externí odkaz:
https://doaj.org/article/be4ae17280f34ef1b25bb64a7e091428
Autor:
Erik van der Wal, Bianca den Hamer, Patrick J. van der Vliet, Merve Tok, Tom Brands, Bert Eussen, Richard J.L.F. Lemmers, Christian Freund, Annelies de Klein, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom, Rabi Tawil, Silvère M. van der Maarel, Jessica C. de Greef
Publikováno v:
Stem Cell Research, Vol 40, Iss , Pp - (2019)
Facioscapulohumeral dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4q resulting in sporadic misexpression of the transcription factor DUX4 in skeletal muscle tissue. In ~4% of families, de novo D4Z4 contracti
Externí odkaz:
https://doaj.org/article/85deb5651a0140ff82313268a573d294
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 11, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/8bacd31c95394e2c86d4481139d96127