Identification of a DLG3 stop mutation in the MRX20 family
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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)
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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
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Calcified tissue international - ISSN 0171-967X-114:2 (2024) p. 171-181
Mitochondrial GpC and CpG DNA hypermethylation cause metabolic stress-induced mitophagy and cholestophagy
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International journal of molecular sciences - ISSN 1422-0067-24:22 (2023) p. 1-25
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
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Genetics in medicine - ISSN 1530-0366-24:7 (2022) p. 1583-1591