277 citations
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July 2002 in “Molecular Endocrinology” In this study, homozygous VDR null mutant mice exhibited nonfunctional vitamin D receptors, leading to growth abnormalities and revealing the limited physiological importance of vitamin D pathways outside the classical receptor.
1533 citations
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October 2008 in “Endocrine reviews” This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.
73 citations
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that the vitamin D-VDR system is crucial for mineral and bone metabolism post-weaning and identified missense mutations in 1alpha-hydroxylase causing type I rickets.
25 citations
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June 2017 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that humanized mouse models expressing mutated or reduced levels of the vitamin D receptor were able to maintain normal mineral homeostasis and prevent typical symptoms of vitamin D resistance.
37 citations
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August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that in a mouse model with hereditary 1,25-dihydroxyvitamin D resistant rickets, a mutant vitamin D receptor lacking hormone-binding ability could restore normal hair cycling and affect parathyroid hormone regulation.