Researcher
Eveline Boudin
- Research Expertise:Our research is focused on the identification of the genetic cause and corresponding disease mechanism of different skeletal disorders using different genetic techniques followed by further in vivo and in vitro experiments.
- Keywords:SKELETAL DISORDERS, OSTEOPOROSIS, GENETIC RESEARCH, SCLEROSTIN, BONE DISEASE, WNT PATHWAY, Biomedical sciences (incl. biochemistry)
- Disciplines:Cell signalling, Genetics, Musculo-skeletal systems
- Research techniques:In vitro: cell culture, western blot, ELISA, luciferase reporters, ... Sequencing (Next generation or sanger)
- Users of research expertise:Genetic researchers
Affiliations
- Medical genetics of obesity and skeletal disorders (MGENOS) (Research group)
Member
From1 Oct 2020 → 30 Sep 2021 - Medical genetics of obesity and skeletal disorders (MGENOS) (Research group)
Member
From1 Sep 2007 → 30 Sep 2020
Projects
1 - 7 of 7
- In vitro studies into the downstream regulatory mechanism whereby LRP4 and sclerostin together regulate Wnt siganling activity.From1 Apr 2019 → 30 Mar 2020Funding: BOF - projects
- Functional evaluation of the role of LRP4 and NPR3 in the regulation of bone metabolism by regulating respectively bone mass and bone growth.From1 Oct 2017 → 30 Sep 2020Funding: FWO fellowships
- Study into the role of genetic variation in NPR3 in the regulation of endochondral bone formation and bone growth.From1 Apr 2017 → 31 Mar 2018Funding: BOF - Other initiatives
- Study into the role of NPR3 in the regulation of endochondral bone formation and bone growth.From1 Jan 2017 → 31 Dec 2019Funding: FWO research grant KAN
- Identification of a novel disease causing gene for osteopetrosis using next generation sequencing technology.From1 Feb 2015 → 31 Dec 2015Funding: BOF - Other initiatives
- Evaluation of the role of LRP4 in the regulation of Wnt/Bcatenin dependent Wnt signalling and bone formation.From1 Oct 2013 → 30 Sep 2016Funding: FWO fellowships
- Genetic analysis of the role of sFRP1 and 4 in the bone homeostasis.From1 Jan 2011 → 31 Dec 2012Funding: IWT personal funding - strategic basic research grants
Publications
1 - 10 of 43
- Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia(2023)
Authors: Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schuetz, Tobias B. Haack, Axel Weber, Eleni Biliouri, Mateja Vinksel, et al.
Pages: 498 - 504 - A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix(2023)
Authors: Gretl Hendrickx, Eveline Boudin, Ellen Steenackers, Corinne Collet, David Genevi, Wim Van Hul
Pages: 1 - 9 - Broadening the spectrum of loss-of-function variants in NPR-C-related extreme tall stature(2022)
Authors: Peter Lauffer, Eveline Boudin, Daniëlle C.M. van der Kaay, Saskia Koene, Arie van Haeringen, Vera van Tellingen, Wim Van Hul, Timothy C.R. Prickett, Eric A. Espiner, Hermine A. van Duyvenvoorde
- Identification of compound heterozygous variants in LRP4 demonstrates that a pathogenic variant outside the third β-propeller domain can cause sclerosteosis(2022)
Authors: Yentl Huybrechts, Eveline Boudin, Gretl Hendrickx, Ellen Steenackers, Neveen Hamdy, Guillermo Martinez Diaz-Guerra, Milagros Sierra Bracamonte, Natasha M. Appelman-Dijkstra, Wim Van Hul
- Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome(2021)
Authors: Arne Decramer, Stuart Alan Cain, Peter Houpt, Frederik Verstreken, Jan Noyez, Christophe Hermans, Erik Fransen, Ajay Kumar, Geert Vandeweyer, Bart Loeys, et al.
Pages: 778 - 782 - A panel-based sequencing analysis of patients with Paget's disease of bone suggests enrichment of rare genetic variation in regulators of NF-κB signaling and supports the importance of the 7q33 locus(2021)
Authors: Raphaël De Ridder, Geert Vandeweyer, Eveline Boudin, Gretl Hendrickx, Yentl Huybrechts, Tycho Canter Cremers, Jean-Pierre Devogelaer, Geert Mortier, Erik Fransen, Wim Van Hul
Pages: 656 - 665 - A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis(2020)
Authors: Raphaël De Ridder, Eveline Boudin, M. Carola Zillikens, Joe Ibrahim, Bram C. J. van der Eerden, Wim Van Hul
Pages: 1 - 8 - Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome(2020)
Authors: Adrian Palencia-Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, et al.
Pages: 977 - 988 - WNT16 Requires G alpha Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts(2020)
Authors: Gretl Hendrickx, Eveline Boudin, Marinus Verbeek, Erik Fransen, Geert Mortier, Wim Van Hul
Pages: 294 - 302 - WNT signaling and bone(2020)
Authors: Yentl Huybrechts, Eveline Boudin, Wim Van Hul