Evolutionary and functional analyses of LRP5 in archaic and extant modern humans
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Human genomics - ISSN 1473-9542-18:1 (2024) p. 1-13
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-109:7 (2024) p. 1891-1898
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
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687
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Calcified tissue international - ISSN 0171-967X-113:5 (2023) p. 552-557