Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 AlteredExpression disease BEFREE Correlation of vitamin D and vitamin D receptor expression in patients with alopecia areata: a clinical paradigm. 29243839 2018
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene.Some HVDRR patients also have alopecia. 28013309 2017
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 Biomarker disease BEFREE Absence of vitamin D receptor (VDR)-mediated PPARγ suppression causes alopecia in VDR-null mice. 27932380 2017
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE In conclusion, we identified a novel missense mutation of VDR causing HVDRR with alopecia. 28698609 2017
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Without affecting the expression, conformation, nuclear location of VDR or heteridimerization with RXR, VDR-R343H impairs the transactivation activity of VDR on downstream transcription, accounting for HVDRR features with alopecia. 29127362 2017
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Recently, we generated a mouse model of HVDRR without alopecia wherein a mutant human VDR lacking 1,25(OH)<sub>2</sub>D<sub>3</sub>-binding activity was expressed in the absence of endogenous mouse VDR. 26323657 2016
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presentation of leg tenderness and clinical features of HVDRR including severe rickets, hypocalcemia and hypophosphatemia without alopecia. 26422470 2015
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Patient 2 is a 37-year-old female with milder HVDRR and alopecia due to a homozygous p.Gly319Val mutation in the VDR ligand-binding domain. 25708797 2015
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 Biomarker disease BEFREE In particular, the missing protein part alters the VDR heterodimerization with the retinoid X receptor which has been correlated with the presence of alopecia. 25060608 2014
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Importantly, however, neither alopecia nor the dermal cysts characteristic of VDR-null mice were observed in the skin of these hVDR-L233S mutant mice. 25147982 2014
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE The mutation rendered the VDR non-functional, leading to HVDRR, with absence of alopecia. 23026218 2013
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 Biomarker disease CTD_human HR mutations confer an alopecia phenotype similar to VDR mutations in mice and humans, but the underlying molecular mechanisms have not been elucidated. 22466564 2012
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE The data indicate that VDR mutations that cause defects in DNA binding, RXR heterodimerization or absence of the VDR cause alopecia while mutations that alter VDR affinity for 1,25(OH)(2)D(3) or disrupt coactivator interactions do not cause alopecia. 21693169 2011
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE We analyzed the VDR gene of a young girl who exhibited the clinical features of HVDRR without alopecia. 21812032 2011
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Point mutation of rat Hr at conserved residues corresponding to natural mutants causing alopecia in mice (G985W and a C-terminal deletion DeltaAK) and in humans (P95S, C422Y, E611G, R640Q, C642G, N988S, D1030N, A1040T, V1074M, and V1154D), as well as alteration of residues in the C-terminal Jumonji C domain implicated in histone demethylation activity (C1025G/E1027G and H1143G) revealed that all Hr mutants retained VDR association, and that transrepressor activity was selectively abrogated in C642G, G985W, N988S, D1030N, V1074M, H1143G, and V1154D. 20512927 2010
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 Biomarker disease BEFREE Vitamin D receptor knockout mice express a hair follicle cycling defect and a hyperproliferative phenotype resulting in disordered skin structure, epidermal thickening, and alopecia. 20362670 2010
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE In conclusion, we identified a novel nonsense mutation in the VDR gene in two patients with HVDRR and alopecia. 21073129 2010
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 Biomarker disease BEFREE In this study, we examined the VDR from a young boy with clinical features of HVDRR including severe rickets, hypocalcemia, hypophosphatemia and partial alopecia. 19815438 2010
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 Biomarker disease BEFREE Overall, VDR KO mice showed several aging related phenotypes, including poorer survival, early alopecia, thickened skin, enlarged sebaceous glands and development of epidermal cysts. 19500727 2009
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. 19049339 2009
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE The vitamin D receptor (VDR) and its corepressor Hairless (HR) are thought to regulate key steps in the hair cycle because mutations in VDR or HR cause alopecia in humans and mice. 19819974 2009
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. 19169476 2008
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Vitamin D receptor gene polymorphisms are not associated with alopecia areata. 17822494 2007
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Since the patient did not have alopecia or papular lesions of the skin generally found in patients with premature stop mutations this suggests that this distally truncated VDR can still regulate the hair cycle and epidermal differentiation possibly through its interactions with RXR and HR to suppress gene transactivation. 17078924 2007
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.500 GeneticVariation disease BEFREE Atrichia with papular lesions (APL) and hereditary vitamin D-resistant rickets have a similar congenital hair loss disorder caused by mutations in hairless (HR) and vitamin D receptor (VDR) genes, respectively. 17609203 2007