Publications by authors named "Ellen Steenackers"

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The Paraoxonase () Gene Family in Health, Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) and Other Diseases.
Tammy Huybrechts, Kristien Franck, Ellen Steenackers, Wim Van Hul

Int J Mol Sci· November 2025

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A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.
Yentl Huybrechts, Natasha M Appelman-Dijkstra, Ellen Steenackers, Wouter Van Beylen, Geert Mortier

J Clin Endocrinol Metab· June 2024

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An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
Gretl Hendrickx, Eveline Boudin, Ligia Mateiu, Timur A Yorgan, Ellen Steenackers

Calcif Tissue Int· February 2024

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Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.
Yentl Huybrechts, Raphaël De Ridder, Ellen Steenackers, Jean-Pierre Devogelaer, Geert Mortier

Calcif Tissue Int· November 2023

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Identification of a Novel Nonsense Variant in the Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.
Feroz Khan, Abida Arshad, Asmat Ullah, Ellen Steenackers, Geert Mortier

Mol Syndromol· June 2023

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A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.
Gretl Hendrickx, Eveline Boudin, Ellen Steenackers, Corinne Collet, Geert R Mortier

Bone· February 2023

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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Yentl Huybrechts, Eveline Boudin, Gretl Hendrickx, Ellen Steenackers, Neveen Hamdy

Genes (Basel)· December 2021

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Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates.
Liza Das, Vandana Dhiman, Pinaki Dutta, Ashwani Sood, Mahesh Prakash, Ellen Steenackers

AACE Clin Case Rep· October 2021

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Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
Liza Das, Vandana Dhiman, Wim Van Hul, Anil Bhansali, Yashpal Gogate, Ellen Steenackers

Bone Rep· June 2020

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Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
Gretl Hendrickx, Vere M Borra, Ellen Steenackers, Timur A Yorgan, Christophe Hermans

PLoS Genet· April 2018

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The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.
Eveline Boudin, Timur Yorgan, Igor Fijalkowski, Stephan Sonntag, Ellen Steenackers

J Bone Miner Res· August 2017

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Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
Gretl Hendrickx, Eveline Boudin, Ellen Steenackers, Torben Leo Nielsen, Marianne Andersen

Calcif Tissue Int· March 2017

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A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
Igor Fijalkowski, Ellen Geets, Ellen Steenackers, Viviane Van Hoof, Feliciano J Ramos

J Bone Miner Res· April 2016

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Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings.
James J O'Byrne, Ethna Phelan, Ellen Steenackers, Wim van Hul, William Reardon

Clin Dysmorphol· April 2016

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Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred.
Sanjay Kumar Bhadada, Subbiah Sridhar, Ellen Steenackers, Vandana Dhiman, Geert Mortier

Calcif Tissue Int· February 2014

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A common LRP4 haplotype is associated with bone mineral density and hip geometry in men-data from the Odense Androgen Study (OAS).
Eveline Boudin, Ellen Steenackers, Fenna de Freitas, Torben Leo Nielsen, Marianne Andersen

Bone· April 2013

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Novel SOST gene mutation in a sclerosteosis patient and her parents.
Sanjay Kumar Bhadada, Ashu Rastogi, Ellen Steenackers, Eveline Boudin, Ashutosh Arya

Bone· February 2013

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Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis.
Eveline Boudin, Elke Piters, Igor Fijalkowski, Gino Stevenheydens, Ellen Steenackers

Bone· January 2013

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Phospholipid scramblase 1 is secreted by a lipid raft-dependent pathway and interacts with the extracellular matrix protein 1 in the dermal epidermal junction zone of human skin.
Joseph Merregaert, Johanna Van Langen, Uwe Hansen, Peter Ponsaerts, Abdoelwaheb El Ghalbzouri, Ellen Steenackers

J Biol Chem· November 2010

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