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• W2152794908 abstract "Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare disease caused by mutations in the vitamin D receptor (VDR). The consequence of defective VDR is the inability to absorb calcium normally in the intestine. This leads to a constellation of metabolic abnormalities including hypocalcemia, secondary hyperparathyroidism and hypophosphatemia that cause the development of rickets at an early age in affected children. An interesting additional abnormality is the presence of alopecia in some children depending on the nature of the VDR mutation. 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)2D3 or disrupt coactivator interactions do not cause alopecia. The cumulative findings indicate that hair follicle cycling is dependent on unliganded actions of the VDR. Further research is ongoing to elucidate the role of the VDR in hair growth and differentiation." @default.
• W2152794908 created "2016-06-24" @default.
• W2152794908 creator A5036496348 @default.
• W2152794908 creator A5060455909 @default.
• W2152794908 date "2011-12-01" @default.
• W2152794908 modified "2023-10-03" @default.
• W2152794908 title "The role of vitamin D receptor mutations in the development of alopecia" @default.
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• W2152794908 doi "https://doi.org/10.1016/j.mce.2011.05.045" @default.
• W2152794908 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3196847" @default.
• W2152794908 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21693169" @default.
• W2152794908 hasPublicationYear "2011" @default.
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