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Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schütz L, Haack TB, Weber A, Biliouri E, Vinkšel M, Zagožen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR. Beyltjens T, et al. Among authors: hendrickx g. J Med Genet. 2023 May;60(5):498-504. doi: 10.1136/jmg-2022-108739. Epub 2022 Oct 14. J Med Genet. 2023. PMID: 36241386 Free PMC article.
Genetic control of bone mass.
Boudin E, Fijalkowski I, Hendrickx G, Van Hul W. Boudin E, et al. Among authors: hendrickx g. Mol Cell Endocrinol. 2016 Sep 5;432:3-13. doi: 10.1016/j.mce.2015.12.021. Epub 2015 Dec 30. Mol Cell Endocrinol. 2016. PMID: 26747728 Review.
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
Hendrickx G, Borra VM, Steenackers E, Yorgan TA, Hermans C, Boudin E, Waterval JJ, Jansen IDC, Aydemir TB, Kamerling N, Behets GJ, Plumeyer C, D'Haese PC, Busse B, Everts V, Lammens M, Mortier G, Cousins RJ, Schinke T, Stokroos RJ, Manni JJ, Van Hul W. Hendrickx G, et al. PLoS Genet. 2018 Apr 5;14(4):e1007321. doi: 10.1371/journal.pgen.1007321. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29621230 Free PMC article.
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.
De Ridder R, Vandeweyer G, Boudin E, Hendrickx G, Huybrechts Y, Cremers TC, Devogelaer JP, Mortier G, Fransen E, Van Hul W. De Ridder R, et al. Among authors: hendrickx g. Calcif Tissue Int. 2021 Dec;109(6):656-665. doi: 10.1007/s00223-021-00881-w. Epub 2021 Jun 25. Calcif Tissue Int. 2021. PMID: 34173013
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Huybrechts Y, Boudin E, Hendrickx G, Steenackers E, Hamdy N, Mortier G, Martínez Díaz-Guerra G, Bracamonte MS, Appelman-Dijkstra NM, Van Hul W. Huybrechts Y, et al. Among authors: hendrickx g. Genes (Basel). 2021 Dec 28;13(1):80. doi: 10.3390/genes13010080. Genes (Basel). 2021. PMID: 35052419 Free PMC article.
158 results