36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
11 citations
,
January 2017 in “Biochemical and biophysical research communications” This study observed that Cyp27b1−/− mice exhibited growth and skeletal abnormalities similar to those of Vdr−/− mice, despite differences like the development of alopecia in Vdr−/− mice, suggesting that 1α,25D3 may directly influence chondrocyte proliferation and differentiation.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
10 citations
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June 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the vitamin D receptor plays a crucial role in promoting differentiation and protecting against UVB-induced DNA damage in murine melanocytes, suggesting potential implications for melanoma progression.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
4 citations
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May 2021 in “Molecules” This study suggests that analyzing hair samples with a liquid chromatography-mass spectrometric assay may offer a reliable method to measure average quarterly vitamin D levels, potentially complementing blood tests.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers conducted additional IHC staining on equine skin sections and found that collagen type III primarily labels the extracellular matrix, while anti-PDGFR-antibody staining highlights cells with long-shaped processes mainly arranged around hair follicles.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
October 2004 in “Radiotherapy and oncology” Active vitamin D3 might protect hair follicles from radiation damage.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
23 citations
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October 2009 in “Gastroenterology” This article reviews the multifaceted roles of vitamin D beyond bone health and notes its potential involvement in reducing risks of certain cancers and autoimmune diseases, but it presents no new clinical results.
August 2022 in “Indonesian Journal of Medical Chemistry and Bioinformatics” This in-silico study identified several compounds as potential Vitamin D Receptor agonists, with Dolichosterone showing the strongest binding energy.
4 citations
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September 2021 in “Hormone and Metabolic Research” This study found that VDR polymorphisms, particularly ApaI and FokI variants, are associated with hormonal and metabolic disturbances in women with PCOS, with notable variations across different ethnicities.
51 citations
,
September 2008 in “Journal of Investigative Dermatology” This article reviews the role of vitamin D receptor in protecting the skin from UV radiation-induced damage and tumor formation, but it reports no new clinical results.
1 citations
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January 2023 in “Burns and trauma” This study found that tdDPC-EVs significantly improved wound healing by enhancing angiogenesis through the KLF4/VEGFA axis, offering advantages over traditional DPC-EVs.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
1533 citations
,
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.
845 citations
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February 2001 in “The Journal of Clinical Endocrinology & Metabolism” This study identified the presence of the enzyme 1 alpha-hydroxylase in various extrarenal tissues, suggesting its potential role in modulating vitamin D function in peripheral tissues.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
This study demonstrated that a ligand-independent action of the vitamin D receptor significantly affects keratinocyte behavior in hair follicles and skin, pointing to its crucial role in maintaining normal hair and skin structures in rats.
31 citations
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January 2007 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that c-Jun is essential for vitamin D receptor expression, and the vitamin D receptor inhibits c-Jun-dependent cell death through non-classical mechanisms independent of vitamin D3.
9 citations
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October 2014 This chapter hypothesizes that vitamin D signaling in the skin may suppress UV radiation-induced epidermal tumor formation, reviewing potential mechanisms without reporting new clinical results.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
166 citations
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February 2005 in “Behavioural brain research” This study found that VDR knockout mice exhibited muscle and motor impairments affecting locomotor behavior, while cognitive functions such as exploration, working memory, and anxiety appeared unaffected.
September 2005 in “CRC Press eBooks” This study reports that the epidermis is both a source and target for vitamin D3's active form, influencing skin and hair follicle differentiation through a calcium-mediated pathway.
1 citations
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September 2023 in “Life science alliance” In this study, researchers observed that Vdr-knockout mice experience hair cycle arrest during the catagen stage, leading to alopecia, with persistent epithelial strands forming in the hair follicles, indicating Vitamin D receptor's role in regulating hair follicle regression and regeneration.
January 2006 in “Actualidad laboral” In this study, vitamin D3 analogs significantly stimulated hair growth in nude mice with congenital alopecia, whereas the natural form of vitamin D3 did not have the same effect.