Search Results - "Peeters, Silke"

Ultrathin superconducting TaCxN1−x films prepared by plasma-enhanced atomic layer deposition with ion-energy control by Peeters, Silke A., Lennon, Ciaran T., Merkx, Marc J. M., Hadfield, Robert H., Kessels, W. M. M. (Erwin), Verheijen, Marcel A., Knoops, Harm C. M.

“…This work demonstrates that plasma-enhanced atomic layer deposition (PEALD) with substrate biasing enables the preparation of ultrathin superconducting…”
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Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant by Peeters, Silke, Fedoryshchenko, Ivanna, Rabaut, Laura, Verstraeten, Aline, Loeys, Bart L.

“…Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic…”
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Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome by Valdivia Callejon, Irene, Buccioli, Lucia, Bastianen, Jarl, Schippers, Jolien, Verstraeten, Aline, Luyckx, Ilse, Peeters, Silke, Danser, A H Jan, Van Kimmenade, Roland R J, Meester, Josephina, Loeys, Bart

“…Cardiovascular outcome in Marfan syndrome (MFS) patients most prominently depends on aortic aneurysm progression with subsequent aortic dissection. Angiotensin…”
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IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC) by De Kinderen, Pauline, Rabaut, Laura, Perik, Melanie H.A.M., Peeters, Silke, Ponsaerts, Peter, Loeys, Bart, Mortier, Geert, Meester, Josephina A.N., Verstraeten, Aline

“…Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the…”
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A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation by Van Den Heuvel, Lotte J.F., Peeters, Silke, Meester, Josephina A.N., Perik, Melanie, Coucke, Paul, Loeys, Bart L.

“…Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system; and is typically cause…”
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IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type) by De Kinderen, Pauline, Peeters, Silke, Rabaut, Laura, Mortier, Geert, Ponsaerts, Peter, Loeys, Bart, Verstraeten, Aline, Meester, Josephina A.N.

“…Hemizygous missense variants in the X-linked BGN gene, encoding the extracellular matrix protein biglycan, cause spondyloepimetaphyseal dysplasia (SEMD,…”
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The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection by Rodrigues Bento, Jotte, Meester, Josephina, Luyckx, Ilse, Peeters, Silke, Verstraeten, Aline, Loeys, Bart

“…Genetic predisposition and risk factors such as hypertension and smoking can instigate the development of thoracic aortic aneurysm (TAA), which can lead to…”
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Chondrodysplasias and Aneurysmal Thoracic Aortopathy: An Emerging Tale of Molecular Intersection by Verstraeten, Aline, Meester, Josephina, Peeters, Silke, Mortier, Geert, Loeys, Bart

“…Although at first glance chondrodysplasia and aneurysmal thoracic aortopathy seem oddly dissimilar, recent lines of evidences indicate that they share…”
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Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery by De Kinderen, Pauline, Meester, Josephina, Loeys, Bart, Peeters, Silke, Gouze, Elvire, Woods, Steven, Mortier, Geert, Verstraeten, Aline

“…ABSTRACT Induced pluripotent stem cell (iPSC) technology allows pathomechanistic and therapeutic investigation of human heritable disorders affecting tissue…”
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The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2 by Peeters, Silke, De Kinderen, Pauline, Meester, Josephina A. N., Verstraeten, Aline, Loeys, Bart L.

“…Different pathogenic variants in the fibrillin‐1 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan…”
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An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome by Van Den Heuvel, Lotte J.F., Peeters, Silke, Meester, Josephina A.N., Coucke, Paul J., Loeys, Bart L.

“…•No medical intervention can completely arrest aneurysmal growth.•Drugs with immediate translational potential in Marfan syndrome include resveratrol,…”
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The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans by Boudin, Eveline, Yorgan, Timur, Fijalkowski, Igor, Sonntag, Stephan, Steenackers, Ellen, Hendrickx, Gretl, Peeters, Silke, De Maré, Annelies, Vervaet, Benjamin, Verhulst, Anja, Mortier, Geert, D'Haese, Patrick, Schinke, Thorsten, Van Hul, Wim

“…ABSTRACT Sclerosteosis is a rare autosomal recessive bone disorder marked by hyperostosis of the skull and tubular bones. Initially, we and others reported…”
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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome by Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

“…PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme that regulates numerous…”
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The Lrp4 R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans by Boudin, Eveline, Yorgan, Timur, Fijalkowski, Igor, Sonntag, Stephan, Steenackers, Ellen, Hendrickx, Gretl, Peeters, Silke, De Maré, Annelies, Vervaet, Benjamin, Verhulst, Anja, Mortier, Geert, D'Haese, Patrick, Schinke, Thorsten, Van Hul, Wim

“…ABSTRACT   Sclerosteosis is a rare autosomal recessive bone disorder marked by hyperostosis of the skull and tubular bones. Initially, we and others reported…”
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DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age by Peeters, Silke, Declerck, Ken, Thomas, Muriel, Boudin, Eveline, Beckers, Dominique, Chivu, Olimpia, Heinrichs, Claudine, Devriendt, Koenraad, de Zegher, Francis, Van Hul, Wim, Vanden Berghe, Wim, De Schepper, Jean, Rooman, Raoul, Mortier, Geert

“…In a significant proportion of children born small for gestational age (SGA) with failure of catch-up growth, the etiology of short stature remains unclear…”
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Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort by Meester, Josephina A.N., Peeters, Silke, Van Den Heuvel, Lotte, Vandeweyer, Geert, Fransen, Erik, Cappella, Elizabeth, Dietz, Harry C., Forbus, Geoffrey, Gelb, Bruce D., Goldmuntz, Elizabeth, Hoskoppal, Arvind, Landstrom, Andrew P., Lee, Teresa, Mital, Seema, Morris, Shaine, Olson, Aaron K., Renard, Marjolijn, Roden, Dan M., Singh, Michael N., Selamet Tierney, Elif Seda, Tretter, Justin T., Van Driest, Sara L., Willing, Marcia, Verstraeten, Aline, Van Laer, Lut, Lacro, Ronald V., Loeys, Bart L.

“…In a large cohort of 373 pediatric patients with Marfan syndrome (MFS) with a severe cardiovascular phenotype, we explored the proportion of patients with MFS…”
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Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome by Peeters, Silke, Decramer, Arne, Cain, Stuart Alan, Houpt, Peter, Verstreken, Frederik, Noyez, Jan, Hermans, Christophe, Jacobs, Werner, Lammens, Martin, Fransen, Erik, Kumar, Ajay Anand, Vandeweyer, Geert, Loeys, Bart, Van Hul, Wim, Baldock, Clair, Boudin, Eveline, Mortier, Geert

“…Although carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy, its pathogenesis remains largely unknown. An estimated…”
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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 by Van Gucht, Ilse, Meester, Josephina A.N., Bento, Jotte Rodrigues, Bastiaansen, Maaike, Bastianen, Jarl, Luyckx, Ilse, Van Den Heuvel, Lotte, Neutel, Cédric H.G., Guns, Pieter-Jan, Vermont, Mandy, Fransen, Erik, Perik, Melanie H.A.M., Velchev, Joe Davis, Alaerts, Maaike, Schepers, Dorien, Peeters, Silke, Pintelon, Isabel, Almesned, Abdulrahman, Ferla, Matteo P., Taylor, Jenny C., Dallosso, Anthony R., Williams, Maggie, Evans, Julie, Rosenfeld, Jill A., Sluysmans, Thierry, Rodrigues, Desiderio, Chikermane, Ashish, Bharmappanavara, Gangadhara, Vijayakumar, Kayal, Mottaghi Moghaddam Shahri, Hassan, Hashemi, Narges, Torbati, Paria Najarzadeh, Toosi, Mehran B., Al-Hassnan, Zuhair N., Vogt, Julie, Revencu, Nicole, Maystadt, Isabelle, Miller, Erin M., Weaver, K. Nicole, Begtrup, Amber, Houlden, Henry, Murphy, David, Maroofian, Reza, Pagnamenta, Alistair T., Van Laer, Lut, Loeys, Bart L., Verstraeten, Aline

“…Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-β protein family that translocates cargo molecules such as proteins, RNAs, and…”
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