Researcher
Anne De Paepe
- Disciplines:Musculo-skeletal systems , Clinical genetics and molecular diagnostics, Epigenetics, Immunogenetics, Inflammation, Genetics, Other medical and health sciences not elsewhere classified, Immunogenetics
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → Today - Ghent University (University)
Member
From1 Oct 2013 → 30 Sep 2017 - Rector's Office (Administrative office)
Member
From1 Oct 2013 → 30 Sep 2017 - Board of Governors/Executive Board (Administrative office)
Member
From1 Oct 2013 → 30 Sep 2017 - Ghent University (University)
Responsible
From1 Oct 2013 → 30 Sep 2017 - Rector's Office (Administrative office)
Responsible
From1 Oct 2013 → 30 Sep 2017 - Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 1993 → 30 Sep 2018
Projects
1 - 10 of 32
- GEN-ZEMO: Investing the mechanisms of genetic disorders using the zebrafish model systemFrom1 Jan 2018 → TodayFunding: Other governmental enterprises (Federal Level)
- Study of the molecular background and pathophysiology of monogenic disorders with structural cardiovasuclar anomaliesFrom1 Oct 2014 → TodayFunding: FWO fellowships
- Study of the cardiovascular phenotype and etiopathogenetic mechanisms in pseudoxanthoma elasticum.From1 Oct 2013 → 30 Sep 2018Funding: FWO fellowships
- Belgian Medical Genomics Initiative (BeMGI)From1 Apr 2012 → 31 Dec 2017Funding: IUAP-VII
- Pain and autonomic dysfunction in the hypermobility type of Ehlers-Danlos SyndromeFrom1 Jan 2012 → 30 Jun 2014Funding: BOF - Doctoral projects
- Study of the molecular pathogenesis of the Ehlers-Danlos syndromeFrom1 Jan 2012 → 31 Dec 2014Funding: FWO research grant KAN
- Etiopathogenetic study of inherited disorders of the connective tissue presenting with arterial malformationsFrom1 Oct 2011 → 30 Sep 2014Funding: BOF - Other initiatives, FWO fellowships
- Study of the pathogenesis of arterial tortuosity by using zebrafish as a model organismFrom1 Oct 2011 → 30 Sep 2015Funding: BOF - Other initiatives
- Study of the pathogenic mechanisms involved in the Ehlers-Danlos syndromeFrom1 Mar 2011 → 31 Aug 2014Funding: BOF - Bilateral scientific cooperation
- Role of ABCC6, a transmembrane transporter in the liver, in connective tissue homeostasis, using Pseudoxanthoma Elasticum as a modelFrom1 Jan 2011 → 31 Dec 2014Funding: FWO research project
Publications
1 - 10 of 290
- VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum(2020)
Authors: Eva De Vilder, Mohammad Jakir Hosen, Ludovic Martin, Julie De Zaeytijd, Bart Leroy, Jean-Marc Ebran, Paul Coucke, Anne De Paepe, Olivier Vanakker
Pages: 74 - 79 - Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)(2020)
Authors: Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.
Pages: 374 - 374 - Health-related quality of life in children and young adults with Marfan syndrome(2019)
Authors: Jill C Handisides, Danielle Hollenbeck-Pringle, Karen Uzark, Felicia L Trachtenberg, Victoria L Pemberton, Teresa W Atz, Timothy J Bradley, Elizabeth Cappella, Sylvia De Nobele, Georgeann Keh-Teng Groh, et al.
Pages: 250 - 255 - De arts van morgen moet vertrouwd zijn met de basisbegrippen van de genetica(2019)
Authors: Anne De Paepe
Pages: 24 - 25 - A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta(2019)
Authors: Brecht Guillemyn, Hülya Kayserili, Lynn Demuynck, Patrick Sips, Anne De Paepe, Delfien Syx, Paul Coucke, Fransiska Malfait, Sofie Symoens
Pages: 1801 - 1809 - Creatine transporter defect masquerading as Lujan Syndrome(2019)
Authors: Julie R Jones, Tim Wood, Anne De Paepe, Jules G. Leroy, Roger E Stevenson
Number of pages: 1 - The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype(2019)Volume: 27
Authors: Eva De Vilder, L. Martin, G. Leftheriotis, Paul Coucke, Anne De Paepe, Filip Van Nieuwerburgh, Olivier Vanakker
Pages: 124 - 125 - Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome(2019)
Authors: Delfien Syx, Inge De Wandele, Sofie Symoens, Rita De Rycke, Olivier Hougrand, Nicol Voermans, Anne De Paepe, Fransiska Malfait
Pages: 1853 - 1864 - Cardiovascular manifestations in inherited connective tissue disorders(2018)
Authors: Julie De Backer, Anne De Paepe, Dhavendra Kumar, Perry Elliott
Pages: 617 - 646 - Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model(2018)
Authors: Sarah Delbaere, Tim Van Damme, Delfien Syx, Paul Coucke, Anne De Paepe, Sofie Symoens, Andy Willaert, Fransiska Malfait
Number of pages: 1