Loss of PPARα function promotes epigenetic dysregulation of lipid homeostasis driving ferroptosis and pyroptosis lipotoxicity in metabolic dysfunction associated Steatotic liver disease (MASLD)

Source
Frontiers in molecular medicine - ISSN 2674-0095-3 (2024) p. 1-19
Author(s)

A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis

Source
The journal of clinical endocrinology and metabolism - ISSN 0021-972X- (2024) p. 1-8
Author(s)

An additional Lrp4 high bone mass mutation mitigates the sost-knockout phenotype in mice by increasing bone remodeling

Source
Calcified tissue international - ISSN 0171-967X- (2023) p. 1-11
Author(s)

Unraveling the genetic landscape of high bone mass disorders and Paget’s disease of bone: From variant identification and validation to zebrafish modeling

Source
Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, Departement Biomedische Wetenschappen, 2023,194 p.
Author(s)

Identification of a novel nonsense variant in the DLL3 gene underlying spondylocostal dysostosis in a consanguineous Pakistani family

Source
Molecular syndromology - ISSN 1661-8769-14:3 (2023) p. 191-200
Author(s)
    Feroz Khan, Abida Arshad, Asmat Ullah, Ellen Steenackers, Geert Mortier, Wasim Ahmad, Muhammad Arshad, Sarmir Khan, Amir Hayat, Ikram Khan, Muhammad Asim Khan, Wim Van Hul