Loss of PPARα function promotes epigenetic dysregulation of lipid homeostasis driving ferroptosis and pyroptosis lipotoxicity in metabolic dysfunction associated Steatotic liver disease (MASLD)
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Frontiers in molecular medicine - ISSN 2674-0095-3 (2024) p. 1-19
A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis
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The journal of clinical endocrinology and metabolism - ISSN 0021-972X- (2024) p. 1-8
An additional Lrp4 high bone mass mutation mitigates the sost-knockout phenotype in mice by increasing bone remodeling
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Calcified tissue international - ISSN 0171-967X-114:2 (2024) p. 171-181
Unraveling the genetic landscape of high bone mass disorders and Paget’s disease of bone: From variant identification and validation to zebrafish modeling
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Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, Departement Biomedische Wetenschappen, 2023,194 p.
Identification of a novel nonsense variant in the DLL3 gene underlying spondylocostal dysostosis in a consanguineous Pakistani family
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Molecular syndromology - ISSN 1661-8769-14:3 (2023) p. 191-200