ArticleEndocrinology2014
A humanized mouse model of hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Article in Endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Significant Association of Poly-A and Fok1 Polymorphic Alleles of the Vitamin D Receptor with Vitamin D Serum Levels and Incidence of Squamous Cutaneous Neoplasia.The Journal of investigative dermatology · 2023Article
- Fluoxetine treatment during the postpartal period may have short-term impacts on murine maternal skeletal physiology.Frontiers in pharmacology · 2023Article
- Review
- New aspects of vitamin D metabolism and action - addressing the skin as source and target.Nature reviews. Endocrinology · 2020Review
- The impact of VDR expression and regulation in vivo.The Journal of steroid biochemistry and molecular biology · 2018Article
- The vitamin D receptor: contemporary genomic approaches reveal new basic and translational insights.The Journal of clinical investigation · 2017Review
- Absence of vitamin D receptor (VDR)-mediated PPARγ suppression causes alopecia in VDR-null mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2017Article
- The vitamin D receptor functions as a transcription regulator in the absence of 1,25-dihydroxyvitamin DThe Journal of steroid biochemistry and molecular biology · 2016Article
- Genomic Determinants of Vitamin D-Regulated Gene Expression.Vitamins and hormones · 2016Review
- Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.Physiological reviews · 2016Review
- Mechanisms of Enhancer-mediated Hormonal Control of Vitamin D Receptor Gene Expression in Target Cells.The Journal of biological chemistry · 2015Article
- A High-Calcium and Phosphate Rescue Diet and VDR-Expressing Transgenes Normalize Serum Vitamin D Metabolite Profiles and Renal Cyp27b1 and Cyp24a1 Expression in VDR Null Mice.Endocrinology · 2015Article
- A DNA segment spanning the mouse Tnfsf11 transcription unit and its upstream regulatory domain rescues the pleiotropic biologic phenotype of the RANKL null mouse.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a genetic disease of altered mineral homeostasis due to mutations in the vitamin D receptor (VDR) gene. It is frequently, but not always, accompanied by the presence of alopecia. Mouse models that recapitulate this syndrome have been prepared through genetic deletion of the Vdr gene and are characterized by the presence of rickets and alopecia. Subsequent studies have revealed that VDR expression in hair follicle keratinocytes protects against alopecia and that this activity is independent of the protein's ability to bind 1,25-dihydroxyvitamin D3 [1,25(OH)2D3]. In the present study, we introduced into VDR-null mice a human VDR (hVDR) bacterial artificial chromosome minigene containing a mutation that converts leucine to serine at amino acid 233 in the hVDR protein, which prevents 1,25(OH)2D3 binding. We then assessed whether this transgene recreated features of the HVDRR syndrome without alopecia. RT-PCR and Western blot analysis in one strain showed an appropriate level of mutant hVDR expression in all tissues examined including skin. The hVDR-L233S mutant failed to rescue the aberrant systemic and skeletal phenotype characteristic of the VDR null mouse due to the inability of the mutant receptor to activate transcription after treatment with 1,25(OH)2D3. Importantly, however, neither alopecia nor the dermal cysts characteristic of VDR-null mice were observed in the skin of these hVDR-L233S mutant mice. This study confirms that we have created a humanized mouse model of HVDRR without alopecia that will be useful in defining additional features of this syndrome and in identifying potential novel functions of the unoccupied VDR.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.