Search Results - "Krom, Yvonne D"

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 by Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M

“…Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype…”
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DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis by Knopp, Paul, Krom, Yvonne D, Banerji, Christopher R S, Panamarova, Maryna, Moyle, Louise A, den Hamer, Bianca, van der Maarel, Silvère M, Zammit, Peter S

“…Skeletal muscle wasting in facioscapulohumeral muscular dystrophy (FSHD) results in substantial morbidity. On a disease-permissive chromosome 4qA haplotype,…”
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T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy by Anthony, Karen, Ala, Pierpaolo, Catapano, Francesco, Meng, Jinhong, Domingos, Joana, Perry, Mark, Ricotti, Valeria, Maresh, Kate, Phillips, Lauren C, Servais, Laurent, Seferian, Andreea M, De Lucia, Silvana, de Groot, Imelda, Krom, Yvonne D, Verschuuren, J G M, Niks, Erik H, Straub, Volker, Guglieri, Michela, Voit, Thomas, Morgan, Jennifer, Muntoni, Francesco

“…Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, but many patients have rare revertant fibers that express dystrophin. The skeletal…”
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD by Krom, Yvonne D, Thijssen, Peter E, Young, Janet M, den Hamer, Bianca, Balog, Judit, Yao, Zizhen, Maves, Lisa, Snider, Lauren, Knopp, Paul, Zammit, Peter S, Rijkers, Tonnie, van Engelen, Baziel G M, Padberg, George W, Frants, Rune R, Tawil, Rabi, Tapscott, Stephen J, van der Maarel, Silvère M

“…Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and…”
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SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease by Tapia del Fierro, Andres, den Hamer, Bianca, Benetti, Natalia, Jansz, Natasha, Chen, Kelan, Beck, Tamara, Vanyai, Hannah, Gurzau, Alexandra D., Daxinger, Lucia, Xue, Shifeng, Ly, Thanh Thao Nguyen, Wanigasuriya, Iromi, Iminitoff, Megan, Breslin, Kelsey, Oey, Harald, Krom, Yvonne D., van der Hoorn, Dinja, Bouwman, Linde F., Johanson, Timothy M., Ritchie, Matthew E., Gouil, Quentin A., Reversade, Bruno, Prin, Fabrice, Mohun, Timothy, van der Maarel, Silvère M., McGlinn, Edwina, Murphy, James M., Keniry, Andrew, de Greef, Jessica C., Blewitt, Marnie E.

“…The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC…”
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PABPN1-Dependent mRNA Processing Induces Muscle Wasting by Riaz, Muhammad, Raz, Yotam, van Putten, Maaike, Paniagua-Soriano, Guillem, Krom, Yvonne D, Florea, Bogdan I, Raz, Vered

“…Poly(A) Binding Protein Nuclear 1 (PABPN1) is a multifunctional regulator of mRNA processing, and its expression levels specifically decline in aging muscles…”
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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice by Bouwman, Linde F, den Hamer, Bianca, Verveer, Elwin P, Lerink, Lente J S, Krom, Yvonne D, van der Maarel, Silvère M, de Greef, Jessica C

“…Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle…”
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Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation by Houwen‐van Opstal, Saskia L. S., Heutinck, Lotte, Jansen, Merel, Krom, Yvonne D., Cup, Edith H. C., Hendriksen, Jos G. M., Willemsen, Michel A. A. P., Verschuuren, Jan J. G. M., Niks, Erik H., Groot, Imelda J. M.

“…Introduction/Aims As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study…”
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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model by de Greef, Jessica C, Krom, Yvonne D, den Hamer, Bianca, Snider, Lauren, Hiramuki, Yosuke, van den Akker, Rob F P, Breslin, Kelsey, Pakusch, Miha, Salvatori, Daniela C F, Slütter, Bram, Tawil, Rabi, Blewitt, Marnie E, Tapscott, Stephen J, van der Maarel, Silvère M

“…Abstract In humans, a copy of the DUX4 retrogene is located in each unit of the D4Z4 macrosatellite repeat that normally comprises 8–100 units. The D4Z4 repeat…”
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Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD by KROM, Yvonne D, DUMONCEAUX, Julie, ENGELEN, Baziel G. M. Van, MOULY, Vincent, BUTLER-BROWNE, Gillian S, DER MAAREL, Silvère M. Van, MAMCHAOUI, Kamel, DEN HAMER, Bianca, MARIOT, Virginie, NEGRONI, Elisa, GENG, Linda N, MARTIN, Nicolas, TAWIL, Rabi, TAPSCOTT, Stephen J

“…In most cases facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat in the 4q subtelomere. This contraction is associated…”
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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2 by Lemmers, Richard Jlf, van der Vliet, Patrick J, Balog, Judit, Goeman, Jelle J, Arindrarto, Wibowo, Krom, Yvonne D, Straasheijm, Kirsten R, Debipersad, Rashmie D, Özel, Gizem, Sowden, Janet, Snider, Lauren, Mul, Karlien, Sacconi, Sabrina, van Engelen, Baziel, Tapscott, Stephen J, Tawil, Rabi, van der Maarel, Silvère M

“…Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4…”
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Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 by Balog, Judit, Thijssen, Peter E., Shadle, Sean, Straasheijm, Kirsten R., van der Vliet, Patrick J., Krom, Yvonne D., van den Boogaard, Marlinde L., de Jong, Annika, F Lemmers, Richard J. L., Tawil, Rabi, Tapscott, Stephen J., van der Maarel, Silvère M.

“…Facioscapulohumeral muscular dystrophy is caused by incomplete epigenetic repression of the transcription factor DUX4 in skeletal muscle. A copy of DUX4 is…”
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The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience by Aartsma-Rus, Annemieke, De Waele, Liesbeth, Houwen-Opstal, Saskia, Kirschner, Janbernd, Krom, Yvonne D, Mercuri, Eugenio, Niks, Erik H, Straub, Volker, van Duyvenvoorde, Hermine A, Vroom, Elizabeth

“…Antisense oligonucleotide (ASO) mediated exon skipping aims to reframe dystrophin transcripts for patients with Duchenne muscular dystrophy (DMD). Currently 4…”
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Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients by Catapano, Francesco, Domingos, Joana, Perry, Mark, Ricotti, Valeria, Phillips, Lauren, Servais, Laurent, Seferian, Andreea, Groot, Imelda de, Krom, Yvonne D, Niks, Erik H, Verschuuren, Jan JGM, Straub, Volker, Voit, Thomas, Morgan, Jennifer, Muntoni, Francesco

“…To study the signature of 87 urinary miRNAs in Duchenne muscular dystrophy (DMD) patients, select the most dysregulated and determine statistically significant…”
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Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy by Catapano, Francesco, Scaglioni, Dominic, Maresh, Kate, Ala, Pierpaolo, Domingos, Joana, Selby, Victoria, Ricotti, Valeria, Phillips, Lauren, Servais, Laurent, Seferian, Andreea, Groot, Imelda de, Krom, Yvonne D, Voit, Thomas, Verschuuren, J J G M, Niks, E H, Straub, Volker, Morgan, Jennifer, Muntoni, Francesco

“…To perform cross-sectional and longitudinal miRNA profiling in plasma from Duchenne muscular dystrophy (DMD) subjects and find non-invasive biomarkers in DMD…”
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Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9 by Riaz, Muhammad, Raz, Yotam, Moloney, Elizabeth B, van Putten, Maaike, Krom, Yvonne D, van der Maarel, Silvere M, Verhaagen, Joost, Raz, Vered

“…Gene therapy strategies are promising therapeutic options for monogenic muscular dystrophies, with several currently underways. The adeno-associated viral…”
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Efficient in vivo knock-down of estrogen receptor alpha: application of recombinant adenovirus vectors for delivery of short hairpin RNA by Krom, Yvonne D, Fallaux, Frits J, Que, Ivo, Lowik, Clemens, van Dijk, Ko Willems

“…Adenovirus (Ad) mediated gene transfer is a well-established tool to transiently express constructs in livers of mice in vivo. In the present study, we…”
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Compliance to DMD Care Considerations in the Netherlands by Heutinck, Lotte, Houwen-van Opstal, Saskia L S, Krom, Yvonne D, Niks, Erik H, Verschuuren, Jan J G M, Jansen, Merel, de Groot, Imelda J M

“…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…”
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Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient by Krom, Yvonne D, Dumonceaux, Julie, Mamchaoui, Kamel, den Hamer, Bianca, Mariot, Virginie, Negroni, Elisa, Geng, Linda N, Martin, Nicolas, Tawil, Rabi, Tapscott, Stephen J, van Engelen, Baziel G.M, Mouly, Vincent, Butler-Browne, Gillian S, van der Maarel, Silvère M

“…In most cases facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat in the 4q subtelomere. This contraction is associated…”
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Inhibition of neointima formation by local delivery of estrogen receptor alpha and beta specific agonists by KROM, Yvonne D, PIRES, Nuno M. M, WOUTER JUKEMA, J, DE VRIES, Margreet R, FRANTS, Rune R, HAVEKES, Louis M, VAN DIJK, Ko Willems, QUAX, Paul H. A

“…Neointima formation is the underlying mechanism of (in-stent) restenosis. 17beta-Estradiol (E2) is known to inhibit injury-induced neointima formation and…”
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