Researcher
Fransiska Malfait
- Keywords:collagen, OSteogenesis Imperfecta, pain, connective tissue, proteoglycans, heritavle connective tissue disorders, Genetics, Ehlers-Danlos Syndromes
- Disciplines:Medical genomics, Musculo-skeletal systems
Affiliations
- Department of Biomolecular Medicine (Department)
Member
From1 Oct 2018 → Today - Department of Pediatrics and medical genetics (Department)
Member
From1 Oct 2000 → 30 Sep 2018
Projects
1 - 10 of 20
- Zebrafish as a model to study pain in Ehlers-Danlos syndromesFrom1 Jan 2023 → TodayFunding: Foundations, funds and other with scientific goal
- Ehlers-Danlos Grant Agreement Fransiska Malfait: "Elucidating the genetic basis of Ehlers-Danlos syndromes using whole genome sequencing"From1 Dec 2022 → TodayFunding: Foreign public sponsor
- Ehlers-Danlos Grant Agreement Delfien Syx: "Generation of zebrafish models of classical Ehlers-Danlos syndrome"From1 Dec 2022 → TodayFunding: Foreign public sponsor
- Understanding human linkeropathies: study of the phenotypic and molecular consequences of defective biosynthesis of the glycosaminoglycan tetrasaccharide linker region.From1 Jan 2022 → TodayFunding: FWO research project (including WEAVE projects)
- Investigating Pain-Related Phenotypes in a Mouse Model of Ehlers-Danlos SyndromesFrom16 Aug 2021 → TodayFunding: Other international institutions, not mentioned elsewhere
- Unraveling the Pathomechanisms Underlying Hypermobile Ehlers-Danlos Syndrome: an Integrated Omics ApproachFrom16 Aug 2021 → TodayFunding: Other international institutions, not mentioned elsewhere
- An integrated translational platform to improve the management and outcome of rare heritable connective tissue diseaseFrom1 Jan 2021 → TodayFunding: BOF - projects
- Research equipment for behavior analysis in zebrafish disease models.From1 Dec 2020 → 30 Nov 2022Funding: BOF - scientific equipment program
- Identifying a pain signature in classical Ehlers-Danlos syndromeFrom1 Nov 2020 → 30 Sep 2023Funding: FWO fellowships
- Zebrafish as a model to study pain in rare subtypes of Ehlers-Danlos syndromesFrom1 Nov 2020 → 31 Dec 2021Funding: Other international institutions, not mentioned elsewhere
Publications
41 - 50 of 204
- COL1U+2010related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/EhlersU+2010Danlos syndrome overlap(2020)
Authors: Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, Anthony Vandersteen, Sara Mackay, Emanuele Agolini, Dario Cocciadiferro, Erina Sasaki, et al.
Pages: 396 - 406 - The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) with multidirectional shoulder instability : an observational study(2020)
Authors: Valentien Spanhove, Inge De Wandele, Kjær Birgitte Hougs, Fransiska Malfait, Fran Vanderstukken
Pages: 11 - 18 - Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix(2020)
Authors: Sarah Delbaere, Tibbe Dhooge, Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker, Fransiska Malfait
Pages: 112 - 123 - b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region(2020)
Authors: Sarah Delbaere, Adelbert De Clercq, Shuji Mizumoto, Fredrik Noborn, Jan Willem Bek, Charlotte Gistelinck, Delfien Syx, Phil L. Salmon, Paul Coucke, Göran Larson, et al.
- New insights on the clinical variability of FKBP10 mutations(2020)
Authors: Osama Essawi, Piyanoot Tapaneeyaphan, Charlotte Gistelinck, Fransiska Malfait, David Eyre, Tamer Essawi, Bert Callewaert
- The Ehlers-Danlos syndromes(2020)
Authors: Fransiska Malfait, Marco Castori, Clair A. Francomano, Cecilia Giunta, Tomoki Kosho, Peter H. Byers
- Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study(2020)
Authors: Thiberiu Banica, Marie Coussens, Charlotte Verroken, Inge De Wandele, Fransiska Malfait, Hans-Georg Zmierczak, Bruno Lapauw, Lies Rombaut
Pages: 849 - 856 - Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency(2020)
Authors: Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, et al.
- 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 - Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome(2020)
Authors: Rachel E. Miller, Alia M. Obeidat, Phuong B. Tran, Robin Vroman, Zoë Malfait, Richard J. Miller, Fransiska Malfait, Anne-Marie Malfait
Pages: 2274 - 2283