Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene

October 2009 in “ Journal of Veterinary Internal Medicine ”

D. N. Levine, Zhou Y, R.J. Ghiloni, E.L. Fields, Birkenheuer Aj, J.L. Gookin, I.D. Roberston, Malloy Pj, D. Feldman, D. N. Levine, Zhou Y, R.J. Ghiloni, E.L. Fields, Birkenheuer Aj, J.L. Gookin, I.D. Roberston, Malloy Pj, D. Feldman

1,25-Dihydroxyvitamin D Vitamin D receptor hypocalcemia secondary hyperparathyroidism rickets alopecia calcium supplementation

Studysummary This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.

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research Interactions of the Vitamin D Receptor with the Corepressor Hairless

42 citations , July 2007 in “Journal of Biological Chemistry”

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes

78 citations , November 2005 in “Endocrinology”

This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.

research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis

144 citations , December 2004 in “Molecular Endocrinology”

This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.

research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling

215 citations , September 2003 in “Journal of Biological Chemistry”

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

29 citations , January 2003 in “KARGER eBooks”

In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.

research Analysis of the Relation Between Alopecia and Resistance to 1,25-Dihydroxyvitamin D

100 citations , October 1986 in “Clinical Endocrinology”

This study found that alopecia in hereditary resistance to 1,25(OH)2D may indicate a more severe form of the condition, associated with earlier diagnosis and different responses to calciferol therapy.