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Dorien Schepers

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Citations 766
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Recent Articles
1.
Huybrechts Y, De Ridder R, Bergen D, De Samber B, Boudin E, Tonelli F, et al.
Calcif Tissue Int . 2025 Mar; 116(1):52. PMID: 40085271
The ubiquitin-binding protein p62, encoded by Sequestosome 1 (SQSTM1), is an essential molecular adaptor for selective autophagy. Heterozygous mutations deleting or disrupting the ubiquitin-associated (UBA) domain of p62 have been...
2.
Sieliwonczyk E, Alaerts M, Simons E, Snyders D, Nijak A, Vandendriessche B, et al.
Orphanet J Rare Dis . 2023 Feb; 18(1):23. PMID: 36721196
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...
3.
Sieliwonczyk E, Vandendriessche B, Claes C, Mayeur E, Alaerts M, Holmgren P, et al.
Sci Rep . 2023 Jan; 13(1):1491. PMID: 36707549
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...
4.
Nijak A, Simons E, Vandendriessche B, Van de Sande D, Fransen E, Sieliwonczyk E, et al.
Biol Open . 2022 Feb; 11(2). PMID: 35195246
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,...
5.
Sieliwonczyk E, Matchkov V, Vandendriessche B, Alaerts M, Bakkers J, Loeys B, et al.
Rev Physiol Biochem Pharmacol . 2021 Sep; 184:33-68. PMID: 34533615
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...
6.
Simons E, Labro A, Saenen J, Nijak A, Sieliwonczyk E, Vandendriessche B, et al.
Eur J Med Genet . 2021 Aug; 64(11):104322. PMID: 34438094
Sudden cardiac death (SCD) is a common cause of death in young adults. In up to 80% of cases a genetic cause is suspected. Next-generation sequencing of candidate genes can...
7.
Van Gucht I, Meester J, Rodrigues Bento J, Bastiaansen M, Bastianen J, Luyckx I, et al.
Am J Hum Genet . 2021 May; 108(6):1115-1125. PMID: 34010605
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 ribonucleoprotein complexes into the nucleus in...
8.
Nijak A, Saenen J, Labro A, Schepers D, Loeys B, Alaerts M
Int J Mol Sci . 2021 Apr; 22(6). PMID: 33802229
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...
9.
Sieliwonczyk E, Alaerts M, Robyns T, Schepers D, Claes C, Corveleyn A, et al.
Europace . 2020 Nov; 23(6):918-927. PMID: 33221854
Aims: We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity associated with this mutation, clinical data of 101...
10.
Nijak A, Labro A, De Wilde H, Dewals W, Peigneur S, Tytgat J, et al.
Front Cardiovasc Med . 2020 Aug; 7:117. PMID: 32850980
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 gene, encoding...