ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Bron
Acta neuropathologica communications - ISSN 2051-5960-12:1 (2024) p. 1-32
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
Bron
European journal of human genetics - ISSN 1018-4813- (2024) p.
Identification of a DLG3 stop mutation in the MRX20 family
Bron
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 317-323
Loss of PPARα function promotes epigenetic dysregulation of lipid homeostasis driving ferroptosis and pyroptosis lipotoxicity in metabolic dysfunction associated Steatotic liver disease (MASLD)
Bron
Frontiers in molecular medicine - ISSN 2674-0095-3 (2024) p. 1-19
An additional Lrp4 high bone mass mutation mitigates the sost-knockout phenotype in mice by increasing bone remodeling
Bron
Calcified tissue international - ISSN 0171-967X-114:2 (2024) p. 171-181