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Marjolijn Renard
Ghent University
52Publications
17H-index
879Citations
Publications 52
Newest
We appreciate the valid comments by Caspar and colleagues on our recent paper entitled “Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysms and Dissections” [(1)][1]. Fifty-three potential heritable thoracic aortic aneurysm and dissection (HTAAD) genes were curated using a
#1Marjolijn Renard (UGent: Ghent University)H-Index: 17
#2Suzanne Vanhauwaert (UGent: Ghent University)H-Index: 4
Last.Andy Willaert (UGent: Ghent University)H-Index: 15
view all 15 authors...
Reverse transcription quantitative PCR (RT-qPCR) is the gold standard method for gene expression analysis on mRNA level. To remove experimental variation, expression levels of the gene of interest are typically normalized to the expression level of stably expressed endogenous reference genes. Identifying suitable reference genes and determining the optimal number of reference genes should precede each quantification study. Popular reference genes are not necessarily stably expressed in the exami...
Considerable morbidity and mortality is associated with thoracic aortic aneurysm and dissection (TAAD). In addition to environmental factors, genetic defects can contribute to the development of TAAD. Our understanding of the pathogenesis of TAAD has evolved substantially in the last years.
#1Felke Steijns (Ghent University Hospital)H-Index: 2
#2Jolanda van Hengel (UGent: Ghent University)H-Index: 25
Last.Marjolijn Renard (Ghent University Hospital)H-Index: 17
view all 5 authors...
Fibrillins are major constituents of microfibrils, which are essential components of the extracellular matrix of connective tissues where they contribute to the tissue homeostasis. Although it is known that microfibrils are abundantly expressed in the left ventricle of the heart, limited data are available about the presence of microfibrils in the other parts of the myocardial tissue and whether there are age or sex-related differences in the spatial arrangement of the microfibrils. This basic k...
#1Marjolijn Renard (UGent: Ghent University)H-Index: 17
#2Catherine Francis (NIH: National Institutes of Health)H-Index: 4
Last.De Backer J (UGent: Ghent University)H-Index: 39
view all 22 authors...
Abstract Background Thoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant. An evidence-based strategy for selection of genes to test in hereditary thoracic aortic aneurysm and dissection (HTAAD) helps inform family screening and intervention to prevent life-threatening thoracic aortic events. Objectives The purpose of this study was to accurately identify ...
#2Felke SteijnsH-Index: 2
Last.De Backer J (Ghent University Hospital)H-Index: 39
view all 11 authors...
Background:The introduction of next-generation sequencing techniques has substantially increased the identification of new genetic variants and hence the necessity of accurate variant interpretation. In 2015, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology proposed new variant interpretation guidelines. Gene-specific characteristics were, however, not considered, sometimes leading to inconsistent variant interpretation. Methods:To allow a more un...
#1Marjolijn RenardH-Index: 17
#2Elise C. ManaloH-Index: 2
Last.Lynn Y. SakaiH-Index: 66
view all 6 authors...
Background: Enhanced TGFβ signaling is observed in several heritable forms of thoracic aortic aneurysms and dissection, including Marfan syndrome (MFS). The precise role of the TGFβ signaling pathway in the disease process is currently unclear. Methods: We used a genetic approach to investigate the role of the TGFβ pathway in aortic aneurysm formation and progression by crossing the Fbn1GT-8/+ MFS mouse model with Tgfb1+/-, Tgfb2+/- and Fbn1H1D/H1D mice. The latter model is characterized by an i...
#2Felke SteijnsH-Index: 2
Last.De Backer JH-Index: 39
view all 0 authors...
Background:The introduction of next-generation sequencing techniques has substantially increased the identification of new genetic variants and hence the necessity of accurate variant interpretatio...
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