Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

by Yentl Huybrechts, Eveline Boudin, Gretl Hendrickx, Ellen Steenackers, Neveen Hamdy, Geert Mortier, Guillermo Martínez Díaz-Guerra, Milagros Sierra Bracamonte, Natasha M. Appelman-Dijkstra, Wim Van Hul
Published 2021-12-01

Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice

by Lena Marie Westermann, Anke Baranowsky, Giorgia Di Lorenzo, Tatyana Danyukova, Jamie Soul, Jean-Marc Schwartz, Gretl Hendrickx, Michael Amling, Stefan Rose-John, Christoph Garbers, Thorsten Schinke, Sandra Pohl
Published 2021-02-01

Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates

by Liza Das, DM, Vandana Dhiman, PhD, Pinaki Dutta, DM, Ashwani Sood, DNB, Mahesh Prakash, MD, Simran Kaur, MSc, Ellen Steenackers, BSc, Gretl Hendrickx, PhD, Devi Dayal, MD, Wim Van Hul, PhD, Sanjay Kumar Bhadada, DM
Published 2022-03-01

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.

by Gretl Hendrickx, Vere M Borra, Ellen Steenackers, Timur A Yorgan, Christophe Hermans, Eveline Boudin, Jérôme J Waterval, Ineke D C Jansen, Tolunay Beker Aydemir, Niels Kamerling, Geert J Behets, Christine Plumeyer, Patrick C D'Haese, Björn Busse, Vincent Everts, Martin Lammens, Geert Mortier, Robert J Cousins, Thorsten Schinke, Robert J Stokroos, Johannes J Manni, Wim Van Hul
Published 2018-04-01

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

by Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A. Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J. Simon Wiegert, Ida V. D. Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova
Published 2020-11-01