WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

by Yentl Huybrechts, Geert Mortier, Eveline Boudin, Wim Van Hul
Published 2020-04-01

Editorial: Innovative Models in Bone Biology: What can be Learned From Rare Bone Diseases?

by Teun J. de Vries, Wim Van Hul, E. Marelise Eekhoff
Published 2022-03-01

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta

by Lucie Hruskova, Igor Fijalkowski, Wim Van Hul, Ivo Marik, Geert Mortier, Pavel Martasek, Ivan Mazura
Published 2016-09-01

Editorial: Innovative Therapies in Bone Biology: What Can Be Learned From Rare Bone Diseases?

by Elisabeth M. W. Eekhoff, Teun J. de Vries, Ralph J. B. Sakkers, Wim Van Hul
Published 2022-06-01

Osteopatia estriada com esclerose craniana.

by Mafalda Barbosa, Bram Perdu, Virgílio Senra, Filipe Macedo, Wim Van Hul, Margarida Reis-Lima, Jorge Pinto-Basto
Published 2010-12-01

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

by Liza Das, Vandana Dhiman, Wim Van Hul, Anil Bhansali, Yashpal Gogate, Ellen Steenackers, Geert Mortier, Sanjay Kumar Bhadada
Published 2020-06-01

Osteocytic Sclerostin Expression as an Indicator of Altered Bone Turnover

by Yentl Huybrechts, Pieter Evenepoel, Mathias Haarhaus, Etienne Cavalier, Geert Dams, Wim Van Hul, Patrick C. D’Haese, Anja Verhulst
Published 2023-01-01

Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition

by Sara Diels, Sander Huybreghts, Kim Van Hoorenbeeck, Guy Massa, An Verrijken, Stijn L. Verhulst, Luc F. Van Gaal, Wim Van Hul
Published 2020-12-01

Gene set enrichment analysis reveals a first somatic mutation in the catalytic domain of MAP2K1 in a melorheostosis patient

by Raphaël De Ridder, Eveline Boudin, Joe Ibrahim, M. Carola Zillikens, Bram C.J. van der Eerden, Wim Van Hul, Geert Mortier
Published 2020-10-01

Compound heterozygosity of mutations located in the first and third β-propeller domain of LRP4 causes sclerosteosis in a Spanish patient

by Yentl Huybrechts, Ellen Steenackers, Neveen Hamdy, Geert Mortier, Guillermo Martinez, Milagros Sierra Bracamonte, Natasha Appelman-Dijkstra, Wim Van Hul, Eveline Boudin
Published 2020-10-01

Rare Heterozygous <i>PCSK1</i> Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review

by Evelien Van Dijck, Sigri Beckers, Sara Diels, Tammy Huybrechts, An Verrijken, Kim Van Hoorenbeeck, Stijn Verhulst, Guy Massa, Luc Van Gaal, Wim Van Hul
Published 2022-09-01

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

Evolutionary and functional analyses of LRP5 in archaic and extant modern humans

by Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natàlia Garcia-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Published 2024-05-01

Functional assessment of coding and regulatory variants from the DKK1 locus

by Núria Martínez-Gil, Neus Roca-Ayats, Nurgül Atalay, Marta Pineda-Moncusí, Natàlia Garcia-Giralt, Wim Van Hul, Eveline Boudin, Sergi Vives, Mireia Vinardell, Leonardo Mellibovsky, Xavier Nogués, Diana Ovejero, Adolfo Díez-Pérez, Daniel Grinberg, Susanna Balcells
Published 2020-10-01

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

Loss of PPARα function promotes epigenetic dysregulation of lipid homeostasis driving ferroptosis and pyroptosis lipotoxicity in metabolic dysfunction associated Steatotic liver di...

by Claudia Theys, Tineke Vanderhaeghen, Tineke Vanderhaeghen, Evelien Van Dijck, Cedric Peleman, Cedric Peleman, Anne Scheepers, Joe Ibrahim, Ligia Mateiu, Steven Timmermans, Steven Timmermans, Tom Vanden Berghe, Tom Vanden Berghe, Tom Vanden Berghe, Sven M. Francque, Sven M. Francque, Wim Van Hul, Claude Libert, Claude Libert, Wim Vanden Berghe
Published 2024-01-01

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

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

by Melissa M. Formosa, Melissa M. Formosa, Dylan J. M. Bergen, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wolfgang Högler, Wim Van Hul, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie
Published 2021-08-01

Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniqu...

by Martina Rauner, Martina Rauner, Ines Foessl, Melissa M. Formosa, Melissa M. Formosa, Erika Kague, Vid Prijatelj, Vid Prijatelj, Vid Prijatelj, Nerea Alonso Lopez, Bodhisattwa Banerjee, Dylan Bergen, Dylan Bergen, Björn Busse, Ângelo Calado, Eleni Douni, Eleni Douni, Yankel Gabet, Natalia García Giralt, Daniel Grinberg, Nika M. Lovsin, Xavier Nogues Solan, Barbara Ostanek, Nathan J. Pavlos, Fernando Rivadeneira, Ivan Soldatovic, Jeroen van de Peppel, Bram van der Eerden, Wim van Hul, Susanna Balcells, Janja Marc, Sjur Reppe, Sjur Reppe, Sjur Reppe, Kent Søe, Kent Søe, Kent Søe, David Karasik, David Karasik
Published 2021-11-01