Dorien Schepers
University of Antwerp
Publications 17
#1Bart Loeys (University of Antwerp)H-Index: 56
#2Maaike Alaerts (University of Antwerp)H-Index: 9
Last.Inge Goovaerts (University of Antwerp)H-Index: 16
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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 patients with cardiogenetic disorders, for both diagnostic and research purposes. We adhere to a quality management system and have established standard protocols for the sampling and processing of all cardiogenetic patient related materials. Cardiogeneticsba...
#1Elyssa Cannaerts (University of Antwerp)H-Index: 3
#2Marlies Kempers (Radboud University Nijmegen)H-Index: 13
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Background Missense variants in SMAD2 , encoding a key transcriptional regulator of transforming growth factor beta signalling, were recently reported to cause arterial aneurysmal disease. Objectives The aims of the study were to identify the genetic disease cause in families with aortic/arterial aneurysmal disease and to further define SMAD2 genotype–phenotype correlations. Methods and results Using gene panel sequencing, we identified a SMAD2 nonsense variant and four SMAD2 missense variants, ...
#1Josephina Meester (University of Antwerp)H-Index: 7
#2Aline Verstraeten (University of Antwerp)H-Index: 11
Last.Bart Loeys (Radboud University Nijmegen)H-Index: 56
view all 6 authors...
#1Elyssa Cannaerts (University of Antwerp)H-Index: 3
#2Anju Shukla (Manipal University)H-Index: 12
Last.Aline Verstraeten (University of Antwerp)H-Index: 11
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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 severely affected than females with common pre- or perinatal death.
#1Dorien Schepers (University of Antwerp)H-Index: 7
#2Giada Tortora (UNIBO: University of Bologna)H-Index: 4
Last.Ingrid M. B. H. van de Laar (Erasmus University Medical Center)H-Index: 4
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The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downst...
#1Josephina MeesterH-Index: 7
#2Aline VerstraetenH-Index: 11
Last.Bart LoeysH-Index: 56
view all 6 authors...
Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS)...
#1Nikhita Ajit Bolar (University of Antwerp)H-Index: 9
#2Christelle Golzio (Duke University)H-Index: 24
Last.Ann RaesH-Index: 24
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Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. Mutations in UMOD , MUC1 , and REN are responsible for many, but not all, cases of ADTKD. We report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Ultrasound and kidney bi...