Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Dorien Schepers"'
Autor:
Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was observed in nine f
Externí odkaz:
https://doaj.org/article/ec0bef1929b34672b754c194513f25b6
Autor:
Ewa Sieliwonczyk, Bert Vandendriessche, Charlotte Claes, Evy Mayeur, Maaike Alaerts, Philip Holmgren, Tycho Canter Cremers, Dirk Snyders, Bart Loeys, Dorien Schepers
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract Despite numerous prior attempts to improve knock-in (KI) efficiency, the introduction of precise base pair substitutions by the CRISPR-Cas9 technique in zebrafish remains challenging. In our efforts to generate KI zebrafish models of human C
Externí odkaz:
https://doaj.org/article/a80db3a6daa9481ea82d1423965402c5
Autor:
Bert Vandendriessche, Ewa Sieliwonczyk, Maaike Alaerts, Bart L. Loeys, Dirk Snyders, Dorien Schepers
Publikováno v:
Hearts, Vol 1, Iss 3, Pp 181-199 (2020)
Inherited cardiac arrhythmias contribute substantially to sudden cardiac death in the young. The underlying pathophysiology remains incompletely understood because of the lack of representative study models and the labour-intensive nature of electrop
Externí odkaz:
https://doaj.org/article/ac8a49636556499f988e55bd186300be
Autor:
Aleksandra Nijak, Eline Simons, Bert Vandendriessche, Dieter Van de Sande, Erik Fransen, Ewa Sieliwończyk, Ilse Van Gucht, Emeline Van Craenenbroeck, Johan Saenen, Hein Heidbuchel, Peter Ponsaerts, Alain J. Labro, Dirk Snyders, Winnok De Vos, Dorien Schepers, Maaike Alaerts, Bart L. Loeys
Publikováno v:
Biology Open, Vol 11, Iss 2 (2022)
Cardiomyocytes derived from induced pluripotent stem cells (iPSC-CMs) offer an attractive platform for cardiovascular research. Patient-specific iPSC-CMs are very useful for studying disease development, and bear potential for disease diagnostics, pr
Externí odkaz:
https://doaj.org/article/d433d6b4ecc94dee8781298307b06178
Autor:
Aleksandra Nijak, Alain J. Labro, Hans De Wilde, Wendy Dewals, Steve Peigneur, Jan Tytgat, Dirk Snyders, Ewa Sieliwonczyk, Eline Simons, Emeline Van Craenenbroeck, Dorien Schepers, Lut Van Laer, Johan Saenen, Bart Loeys, Maaike Alaerts
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 7 (2020)
Aims: Brugada syndrome (BrS) is an inherited cardiac arrhythmia with an increased risk for sudden cardiac death (SCD). About 20% of BrS cases are explained by mutations in the SCN5A gene, encoding the main cardiac sodium Nav1.5 channel. Here we prese
Externí odkaz:
https://doaj.org/article/2e12587dc2814f6c8a1ad955c9d53689
Autor:
Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severe
Externí odkaz:
https://doaj.org/article/d0f83f1afa7b4a4bb15e3385ed6429ce
Autor:
Maaike Alaerts, Gerarda van de Beek, Ilse Luyckx, Josephina Meester, Dorien Schepers, Aline Verstraeten, Johan Saenen, Emeline Van Craenenbroeck, Inge Goovaerts, Inez Rodrigus, Steven Laga, Jeroen Hendriks, Sofie Goethals, Annemieke De Wilde, Elke Smits, Philippe Jorens, Manon Huizing, Lut Van Laer, Bart Loeys
Publikováno v:
Frontiers in Medicine, Vol 6 (2019)
Cardiogeneticsbank@UZA is an academic hospital integrated biobank that collects aortic tissue, blood, cell lines (fibroblasts, vascular smooth muscle cells, peripheral blood mononuclear cells, and induced pluripotent stem cells), and DNA from patient
Externí odkaz:
https://doaj.org/article/6e956abb0cbe4fcea5275b12f1e4bf38
Autor:
Aleksandra Nijak, Johan Saenen, Alain J. Labro, Dorien Schepers, Bart L. Loeys, Maaike Alaerts
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 6, p 2825 (2021)
Brugada syndrome (BrS) is an inherited cardiac arrhythmia that predisposes to ventricular fibrillation and sudden cardiac death. It originates from oligogenic alterations that affect cardiac ion channels or their accessory proteins. The main hurdle f
Externí odkaz:
https://doaj.org/article/8d0328c36d4e4f5199847a19408bfb25
Autor:
Bert Vandendriessche, Vladimir V. Matchkov, Ewa Sieliwonczyk, Jeroen Bakkers, Maaike Alaerts, Bart Loeys, Dorien Schepers
Publikováno v:
Sieliwonczyk, E, Matchkov, V V, Vandendriessche, B, Alaerts, M, Bakkers, J, Loeys, B & Schepers, D 2023, Inherited Ventricular Arrhythmia in Zebrafish : Genetic Models and Phenotyping Tools . in Reviews of Physiology, Biochemistry and Pharmacology . Springer Science and Business Media Deutschland GmbH, Reviews of Physiology, Biochemistry and Pharmacology, vol. 184, pp. 33-68 . https://doi.org/10.1007/112_2021_65
Reviews of Physiology, Biochemistry and Pharmacology ISBN: 9783031242038
Reviews of Physiology, Biochemistry and Pharmacology ISBN: 9783031242038
In the last years, the field of inheritable ventricular arrhythmia disease modelling has changed significantly with a push towards the use of novel cellular cardiomyocyte based models. However, there is a growing need for new in vivo models to study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0641f4abc9d6660bc214d1e9991916e1
https://pure.au.dk/portal/da/publications/inherited-ventricular-arrhythmia-in-zebrafish(00625f76-96e3-4c1e-bd4a-29ee7e089331).html
https://pure.au.dk/portal/da/publications/inherited-ventricular-arrhythmia-in-zebrafish(00625f76-96e3-4c1e-bd4a-29ee7e089331).html
Autor:
Abdulrahman Almesned, Dorien Schepers, Mehran Beiraghi Toosi, Zuhair N. Al-Hassnan, Jill A. Rosenfeld, Erin M. Miller, Hassan Mottaghi Moghaddam Shahri, Maaike Alaerts, Melanie Perik, Desiderio Rodrigues, Aline Verstraeten, Reza Maroofian, Silke Peeters, Cédric H. G. Neutel, Ilse Luyckx, Nicole Revencu, Jenny C. Taylor, Jarl Bastianen, Isabel Pintelon, Henry Houlden, Matteo P. Ferla, Erik Fransen, Kayal Vijayakumar, Lut Van Laer, Anthony R. Dallosso, Mandy Vermont, Isabelle Maystadt, Lotte Van Den Heuvel, Thierry Sluysmans, David Murphy, K. Nicole Weaver, Paria Najarzadeh Torbati, Jotte Rodrigues Bento, Amber Begtrup, Maggie Williams, Ilse Van Gucht, Maaike Bastiaansen, Ashish Chikermane, Gangadhara Bharmappanavara, Alistair T. Pagnamenta, Bart Loeys, Joe Davis Velchev, Julie Evans, Josephina A.N. Meester, Narges Hashemi, Julie Vogt, Pieter-Jan Guns
Publikováno v:
The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics
Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-beta protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowl