Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Yvonne D Krom"'
Autor:
Muhammad Riaz, Yotam Raz, Maaike van Putten, Guillem Paniagua-Soriano, Yvonne D Krom, Bogdan I Florea, Vered Raz
Publikováno v:
PLoS Genetics, Vol 12, Iss 5, p e1006031 (2016)
Poly(A) Binding Protein Nuclear 1 (PABPN1) is a multifunctional regulator of mRNA processing, and its expression levels specifically decline in aging muscles. An expansion mutation in PABPN1 is the genetic cause of oculopharyngeal muscle dystrophy (O
Externí odkaz:
https://doaj.org/article/b01454b12f4f489ca125969f4059760f
Autor:
Yvonne D Krom, Peter E Thijssen, Janet M Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S Zammit, Tonnie Rijkers, Baziel G M van Engelen, George W Padberg, Rune R Frants, Rabi Tawil, Stephen J Tapscott, Silvère M van der Maarel
Publikováno v:
PLoS Genetics, Vol 9, Iss 4, p e1003415 (2013)
Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each
Externí odkaz:
https://doaj.org/article/83a1bd1783864485aea4de89cfb665bb
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:
Annemieke Aartsma-Rus, Liesbeth De Waele, Saskia Houwen-Opstal, Janbernd Kirschner, Yvonne D. Krom, Eugenio Mercuri, Erik H. Niks, Volker Straub, Hermine A. van Duyvenvoorde, Elizabeth Vroom
Publikováno v:
Journal of Neuromuscular Diseases. 10:315-325
Antisense oligonucleotide (ASO) mediated exon skipping aims to reframe dystrophin transcripts for patients with Duchenne muscular dystrophy (DMD). Currently 4 ASOs have been approved by the Food and Drug Administration targeting exon 45, 51 and 53 ba
Autor:
Karen Anthony, Pierpaolo Ala, Francesco Catapano, Jinhong Meng, Joana Domingos, Mark Perry, Valeria Ricotti, Kate Maresh, Lauren C. Phillips, Laurent Servais, Andreea M. Seferian, Silvana De Lucia, Imelda de Groot, Yvonne D. Krom, J.G.M. Verschuuren, Erik H. Niks, Volker Straub, Michela Guglieri, Thomas Voit, Jennifer Morgan, Francesco Muntoni
Publikováno v:
Human Gene Therapy, 34, 439-448
Human Gene Therapy, 34, 9-10, pp. 439-448
Human Gene Therapy, 34, 9-10, pp. 439-448
Item does not contain fulltext Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, but many patients have rare revertant fibers that express dystrophin. The skeletal muscle pathology of DMD patients includes immune cell infiltratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49514bd8301473406d57fff0a578efbe
https://doi.org/10.1089/hum.2022.166
https://doi.org/10.1089/hum.2022.166
Autor:
Jan J.G.M. Verschuuren, Jos G.M. Hendriksen, Lotte Heutinck, Edith H. C. Cup, Erik H. Niks, Imelda J. M. de Groot, Yvonne D. Krom, Michèl A.A.P. Willemsen, Saskia L.S. Houwen-van Opstal, Merel Jansen
Publikováno v:
Muscle & Nerve, 64(6), 701-709. WILEY
Muscle and Nerve, 64, 6, pp. 701-709
Muscle and Nerve, 64, 701-709
Muscle and Nerve, 64, 6, pp. 701-709
Muscle and Nerve, 64, 701-709
Contains fulltext : 244841.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore th
Autor:
Volker Straub, Jennifer E. Morgan, Thomas Voit, Valeria Ricotti, Laurent Servais, Joana Domingos, Jan J.G.M. Verschuuren, L. Phillips, Imelda J. M. de Groot, Francesco Muntoni, Pierpaolo Ala, V. Selby, Andreea Mihaela Seferian, Erik H. Niks, D. Scaglioni, Yvonne D. Krom, F. Catapano, K. Maresh
Publikováno v:
Epigenomics, 12, 1899-1915
Epigenomics, 12, 21, pp. 1899-1915
Epigenomics, 12(21), 1899-1915. FUTURE MEDICINE LTD
Epigenomics, 12, 21, pp. 1899-1915
Epigenomics, 12(21), 1899-1915. FUTURE MEDICINE LTD
Item does not contain fulltext Aim: To perform cross-sectional and longitudinal miRNA profiling in plasma from Duchenne muscular dystrophy (DMD) subjects and find non-invasive biomarkers in DMD. Subjects/materials & methods: Plasma was collected from
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
Autor:
Fabrice Prin, Shifeng Xue, Yvonne D. Krom, Benetti N, Matthew E. Ritchie, Andrew Keniry, Natasha Jansz, de Greef Jc, Bouwman Lf, Tamara Beck, den Hamer B, Hannah Vanyai, Kelan Chen, Timothy J. Mohun, Edwina McGlinn, Tapia del Fierro A, James M. Murphy, Kelsey Breslin, van der Hoorn D, Harald Oey, Marnie E. Blewitt, Alexandra D. Gurzau, Lucia Daxinger, van der Maarel Sm, Wanigasuriya I, Bruno Reversade, Nguyen Ly Tt
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 targets and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::122339533082382fd1db20eccc936dfd
https://doi.org/10.1101/2021.05.12.443934
https://doi.org/10.1101/2021.05.12.443934
Autor:
Imelda J. M. de Groot, Jan J.G.M. Verschuuren, Lotte Heutinck, Erik H. Niks, Yvonne D. Krom, Merel Jansen, Saskia L.S. Houwen-van Opstal
Publikováno v:
Journal of Neuromuscular Diseases, 8, 6, pp. 927-938
Journal of Neuromuscular Diseases, 8, 927-938
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 8(6), 927-938. IOS PRESS
Journal of Neuromuscular Diseases, 8, 927-938
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 8(6), 927-938. IOS PRESS
Background and objective: To optimize care for patients with DMD, it is essential to know to what extent current care complies with the recommended monitoring frequencies suggested by the DMD care considerations. The objective of this study was to in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ad28d498abfd35cf5b5a2bb14ee1f0