Associated Papers
CYP24A1: the pivotal regulator of vitamin D homeostasis, pathophysiology in metabolic and genetic disease, and emerging target for precision medicine.
Jayathilaka NS et al.
Drug Metabolism Reviews, 2026
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
Eltan M et al.
Clinical Endocrinology, 2025
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Wang Q et al.
Orphanet Journal of Rare Diseases, 2024
Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report.
Zheng Z et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Structural and functional insights on vitamin D receptor and CYP24A1 deleterious single nucleotide polymorphisms: A computational and pharmacogenomics perpetual approach.
Jayaraj JM et al.
Cell Biochemistry and Function, 2021
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