ArticleScientific reports2017
Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 22 citations in OpenAlex.
- 1α,25(OH)Journal of endocrinological investigation · 2025Article
- Exploring the Role of Vitamin D, Vitamin D-Dependent Proteins, and Vitamin D Receptor Gene Variation in Lung Cancer Risk.International journal of molecular sciences · 2024Review
- Retinoid X receptor heterodimers in hepatic function: structural insights and therapeutic potential.Frontiers in pharmacology · 2024Review
- Modulation of the vitamin D receptor by traditional Chinese medicines and bioactive compounds: potential therapeutic applications in VDR-dependent diseases.Frontiers in pharmacology · 2024Review
- Coordination among frequent genetic variants imparts substance use susceptibility and pathogenesis.Frontiers in neuroscience · 2024Article
- Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor.Biomolecules · 2023Article
- Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector.Scientific reports · 2023Article
- A comprehensive in silico exploration of the impacts of missense variants on two different conformations of human pirin protein.Bulletin of the National Research Centre · 2022Article
- Review
- Autoimmune thyroid disease and type 1 diabetes mellitus: same pathogenesis; new perspective?Therapeutic advances in endocrinology and metabolism · 2020Review
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Authors and funding
7 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is a rare disorder, caused by bialellic mutations of the vitamin D receptor (VDR) gene, sometimes associated with alopecia. The aim of this study is to elucidate the mechanism of functional disruption of a novel mutation, detected in a patient with HVDRR, comparing to other mutations with or without alopecia. The patient was a 2-year-old girl with alopecia, who was clinically diagnosed as HVDRR. Genetic analysis revealed a novel homozygous mutation, S360P, located in ligand binding domain (LBD). The mutation was predicted as not disease causing by Polyphen2 and SIFT. But the transcriptional activity of S360P was disrupted as well as other reported mutations, Q152X (located in the hinge lesion), and R274L, H305Q (located in LBD). Following assays revealed no ligand binding affinity, no interaction with cofactors or RXR and no functioning of nuclear localization signals. Our results provide an additional evidence for the previous findings suggesting that DNA binding by the VDR/RXR heterodimer is essential for the function of the VDR in hair development. In conclusion, we identified a novel missense mutation of VDR causing HVDRR with alopecia. Functional analyses revealed that the single amino acid substitution could disrupt the function of the protein.
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