Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 4 , Pages 627-645 , December 2006

Vitamin D resistance

References 

  1. Albright F, Butler AM, Bloomberg E. Rickets resistant to vitamin D therapy. American Journal of Diseases of Children. 1937;54:531–547
  2. Hughes MR, Malloy PJ, O'Malley BW, et al. Genetic defects of the 1,25-dihydroxyvitamin D3 receptor. Journal of Receptor Research. 1991;11:699–716
  3. Malloy PJ, Pike JW, Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocrine Reviews. 1999;20:156–188
  4. Balsan S, Garabedian M, Liberman UA, et al. Rickets and alopecia with resistance to 1,25-dihydroxyvitamin D: two different clinical courses with two different cellular defects. The Journal of Clinical Endocrinology and Metabolism. 1983;57:803–811
  5. Liberman UA, Samuel R, Halabe A, et al. End-organ resistance to 1,25-dihydroxycholecalciferol. The Lancet. 1980;1:504–506
  6. Hochberg Z, Benderli A, Levy J, et al. 1,25-Dihydroxyvitamin D resistance, rickets, and alopecia. The American Journal of Medicine. 1984;77:805–811
  7. Yoshizawa T, Handa Y, Uematsu Y, et al. Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nature Genetics. 1997;16:391–396
  8. Li YC, Pirro AE, Amling M, et al. Targeted ablation of the vitamin D receptor: An animal model of vitamin D-dependent rickets type II with alopecia. Proceedings of the National Academy of Sciences of the United States of America. 1997;94:9831–9835
  9. Van Cromphaut SJ, Dewerchin M, Hoenderop JG, et al. Duodenal calcium absorption in vitamin D receptor-knockout mice: functional and molecular aspects. Proceedings of the National Academy of Sciences of the United States of America. 2001;98:13324–13329
  10. Erben RG, Soegiarto DW, Weber K, et al. Deletion of deoxyribonucleic acid binding domain of the vitamin D receptor abrogates genomic and nongenomic functions of vitamin D. Molecular Endocrinology. 2002;16:1524–1537
  11. Dardenne O, Prud'homme J, Arabian A, et al. Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. Endocrinology. 2001;142:3135–3141
  12. Panda DK, Miao D, Tremblay ML, et al. Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proceedings of the National Academy of Sciences of the United States of America. 2001;98:7498–7503
  13. Dardenne O, Prud'homme J, Hacking SA, et al. Correction of the abnormal mineral ion homeostasis with a high-calcium, high-phosphorus, high-lactose diet rescues the PDDR phenotype of mice deficient for the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1). Bone. 2003;32:332–340
  14. Balsan S, Garabedian M, Larchet M, et al. Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. The Journal of Clinical Investigation. 1986;77:1661–1667
  15. Amling M, Priemel M, Holzmann T, et al. Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: formal histomorphometric and biomechanical analyses. Endocrinology. 1999;140:4982–4987
  16. Li YC, Amling M, Pirro AE, et al. Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated mice. Endocrinology. 1998;139:4391–4396
  17. Masuyama R, Nakaya Y, Tanaka S, et al. Dietary phosphorus restriction reverses the impaired bone mineralization in vitamin D receptor knockout mice. Endocrinology. 2001;142:494–497
  18. Masuyama R, Nakaya Y, Katsumata S, et al. Dietary calcium and phosphorus ratio regulates bone mineralization and turnover in vitamin D receptor knockout mice by affecting intestinal calcium and phosphorus absorption. Journal of Bone and Mineral Research. 2003;18:1217–1226
  19. Mansfield K, Teixeira CC, Adams CS, et al. Phosphate ions mediate chondrocyte apoptosis through a plasma membrane transporter mechanism. Bone. 2001;28:1–8
  20. Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proceedings of the National Academy of Sciences of the United States of America. 2005;102:9637–9642
  21. Masuyama R, Stockmans I, Torrekens S, et al. Chondrocytes support osteoclast formation by expressing RANKL, a process controlled by 1alfa, 25-dihydroxyvitamin D. Journal of Bone and Mineral Research. 2005;20:S18
  22. Song Y, Kato S, Fleet JC. Vitamin D receptor (VDR) knockout mice reveal VDR-independent regulation of intestinal calcium absorption and ECaC2 and calbindin D9k mRNA. Journal of Nutrition. 2003;133:374–380
  23. Wasserman RH. Vitamin D and the intestinal absorption of calcium: a view and an overview. In:  Feldman D,  Pike JW,  Glorieux H editor. Vitamin D. 2nd edn. San Diego: Elsevier Academic Press; 2005;p. 411–428
  24. Bouillon R, Van Cromphaut S, Carmeliet G. Intestinal calcium absorption: Molecular vitamin D mediated mechanisms. Journal of Cellular Biochemistry. 2003;88:332–339
  25. Bouillon R, Carmeliet G, Van Cromphaut S. Intestinal calcium absorption: lessons from knockout mice and men. In:  Feldman D,  Pike JW,  Glorieux H editor. Vitamin D. 2nd edn. San Diego: Elsevier Academic Press; 2005;p. 429–451
  26. Hoenderop JGJ, Nilius B, Bindels RJM. Calcium absorption across epithelia. Physiological Reviews. 2005;85:373–422
  27. Vennekens R, Hoenderop JG, Prenen J, et al. Permeation and gating properties of the novel epithelial Ca(2+) channel. The Journal of Biological Chemistry. 2000;275:3963–3969
  28. Kutuzova GD, Akhter S, Christakos S, et al. Calbindin D(9k) knockout mice are indistinguishable from wild-type mice in phenotype and serum calcium level. Proceedings of the National Academy of Sciences of the United States of America. 2006;103:12377–12381
  29. Kutuzova GD, DeLuca HF. Gene expression profiles in rat intestine identify pathways for 1,25-dihydroxyvitamin D-3 stimulated calcium absorption and clarify its immunomodulatory properties. Archives of Biochemistry and Biophysics. 2004;432:152–166
  30. Rummens K, Van Cromphaut SJ, Carmeliet G, et al. Pregnancy in mice lacking the vitamin D receptor: normal maternal skeletal response, but fetal hypomineralization rescued by maternal calcium supplementation. Pediatric Research. 2003;54:466–473
  31. Weinstein RS, Underwood JL, Hutson MS, et al. Bone histomorphometry in vitamin D-deficient rats infused with calcium and phosphorus. American Journal of Physiology. 1984;246:E499–E505
  32. Eelen G, Verlinden L, Van Camp M, et al. Microarray analysis of 1alpha, 25-dihydroxyvitamin D3-treated MC3T3-E1 cells 14. The Journal of Steroid Biochemistry and Molecular Biology. 2004;89–90:405–407
  33. Eelen G, Verlinden L, Van Camp M, et al. The effects of 1alpha, 25-dihydroxyvitamin D3 on the expression of DNA replication genes. Journal of Bone and Mineral Research. 2004;19:133–146
  34. Verlinden L, Eelen G, Beullens I, et al. Characterization of the condensin component Cnap1 and protein kinase Melk as novel E2F target genes down-regulated by 1,25-dihydroxyvitamin D3. The Journal of Biological Chemistry. 2005;280:37319–37330
  35. Aubin JE, Heersche JNM. Vitamin D and osteoblasts. In:  Feldman D,  Pike JW,  Glorieux H editor. Vitamin D. 2nd edn. San Diego: Elsevier Academic Press; 2005;p. 649–663
  36. Fretz JA, Zella LA, Kim S, et al. 1,25-Dihydroxyvitamin D3 Regulates the Expression of LDL Receptor-Related Protein 5 Via DNA Sequence Elements Located Downstream of the Start Site of Transcription. Molecular Endocrinology. 2006;
  37. Suda T, Takahashi N, Udagawa N, et al. Modulation of osteoclast differentiation and function by the new members of the tumor necrosis factor receptor and ligand families. Endocrine Reviews. 1999;20:345–357
  38. Vertino AM, Bula CM, Chen JR, et al. Nongenotropic, anti-apoptotic signaling of 1alpha, 25(OH)2-vitamin D3 and analogs through the ligand binding domain of the vitamin D receptor in osteoblasts and osteocytes. Mediation by Src, phosphatidylinositol 3-, and JNK kinases. The Journal of Biological Chemistry. 2005;280:14130–14137
  39. Gardiner EM, Baldock PA, Thomas GP, et al. Increased formation and decreased resorption of bone in mice with elevated vitamin D receptor in mature cells of the osteoblastic lineage. The FASEB Journal. 2000;14:1908–1916
  40. Tanaka H, Seino Y. Direct action of 1,25-dihydroxyvitamin D on bone: VDRKO bone shows excessive bone formation in normal mineral condition. The Journal of Steroid Biochemistry and Molecular Biology. 2004;89–90:343–345
  41. Sooy K, Sabbagh Y, Demay MB. Osteoblasts lacking the vitamin D receptor display enhanced osteogenic potential in vitro. Journal of Cellular Biochemistry. 2005;94:81–87
  42. Yamamoto Y, Yoshizawa T, Fukuda T, et al. A genetic evidence of direct VDR function in osteoblasts -Generation and analysis of osteoblast-specific VDRKO mice. Journal of Bone and Mineral Research. 2004;19:S26
  43. De Haes P, Garmyn M, Verstuyf A, et al. Two 14-epi analogues of 1,25-dihydroxyvitamin D3 protect human keratinocytes against the effects of UVB. Archives of Dermatological Research. 2004;295:527–534
  44. De Haes P, Garmyn M, Verstuyf A, et al. 1,25-Dihydroxyvitamin D3 and analogues protect primary human keratinocytes against UVB-induced DNA damage. Journal of Photochemistry and Photobiology. B, Biology. 2005;78:141–148
  45. Bikle DD, Pillai S. Vitamin-D Calcium, and Epidermal Differentiation. Endocrine Reviews. 1993;14:3–19
  46. Scott LJ, Dunn CJ, Goa KL. Calcipotriol ointment. A review of its use in the management of psoriasis. American Journal of Clinical Dermatology. 2001;2:95–120
  47. van de Kerkhof PCM, Vissers WHPM. The topical treatment of psoriasis. Skin Pharmacology and Applied Skin Physiology. 2003;16:69–83
  48. Barna M, Bos JD, Kapsenberg ML, et al. Effect of calcitriol on the production of T-cell-derived cytokines in psoriasis. British Journal of Dermatology. 1997;136:536–541
  49. Segaert S, Garmyn M, Degreef H, et al. Retinoic acid modulates the anti-proliferative effect of 1,25-dihydroxyvitamin D3 in cultured human epidermal keratinocytes. The Journal of Investigative Dermatology. 1997;109:46–54
  50. Hosomi J, Hosoi J, Abe E, et al. Regulation of terminal differentiation of cultured mouse epidermal cells by 1 alpha, 25-dihydroxyvitamin D3. Endocrinology. 1983;113:1950–1957
  51. Tu CL, Chang W, Bikle DD. The extracellular calcium-sensing receptor is required for calcium-induced differentiation in human keratinocytes. The Journal of Biological Chemistry. 2001;276:41079–41085
  52. Ratnam AV, Bikle DD, Cho JK. 1, 25 dihydroxyvitamin D3 enhances the calcium response of keratinocytes. Journal of Cellular Physiology. 1999;178:188–196
  53. Bikle DD, Tu CL, Xie Z, et al. Vitamin D regulated keratinocyte differentiation: Role of coactivators. Journal of Cellular Biochemistry. 2003;88:290–295
  54. Bikle DD, Ng D, Tu CL, et al. Calcium- and vitamin D-regulated keratinocyte differentiation. Molecular and Cellular Endocrinology. 2001;177:161–171
  55. Bollinger BW, Bollag RJ. 1,25-Dihydroxyvitamin D(3), phospholipase D and protein kinase C in keratinocyte differentiation. Molecular and Cellular Endocrinology. 2001;177:173–182
  56. Johansen C, Kragballe K, Henningsen J, et al. 1alpha, 25-dihydroxyvitamin D3 stimulates activator protein 1 DNA-binding activity by a phosphatidylinositol 3-kinase/Ras/MEK/extracellular signal regulated kinase 1/2 and c-Jun N-terminal kinase 1-dependent increase in c-Fos, Fra1, and c-Jun expression in human keratinocytes. The Journal of Investigative Dermatology. 2003;120:561–570
  57. De Haes P, Garmyn M, Degreef H, et al. 1,25-Dihydroxyvitamin D3 inhibits ultraviolet B-induced apoptosis, Jun kinase activation, and interleukin-6 production in primary human keratinocytes. Journal of Cellular Biochemistry. 2003;89:663–673
  58. Komine M, Watabe Y, Shimaoka S, et al. The action of a novel vitamin D3 analogue, OCT, on immunomodulatory function of keratinocytes and lymphocytes. Archives of Dermatological Research. 1999;291:500–506
  59. Zhang JZ, Maruyama K, Ono I, et al. Regulatory effects of 1,25-dihydroxyvitamin D3 and a novel vitamin D3 analogue MC903 on secretion of interleukin-1 alpha (IL-1 alpha) and IL-8 by normal human keratinocytes and a human squamous cell carcinoma cell line (HSC-1). Journal of Dermatological Science. 1994;7:24–31
  60. Skorija K, Cox M, Sisk JM, et al. Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis. Molecular Endocrinology. 2005;19:855–862
  61. Demay MB. Mechanism of vitamin D receptor action. Annals of the New York Academy of Sciences. 2006;1068:204–213
  62. Xie Z, Komuves L, Yu QC, et al. Lack of the vitamin D receptor is associated with reduced epidermal differentiation and hair follicle growth. The Journal of Investigative Dermatology. 2002;118:11–16
  63. Bikle DD, Chang S, Crumrine D, et al. 25 Hydroxyvitamin D 1 alpha-hydroxylase is required for optimal epidermal differentiation and permeability barrier homeostasis. The Journal of Investigative Dermatology. 2004;122:984–992
  64. Mathieu C, Adorini L. The coming of age of 1,25-dihydroxyvitamin D(3) analogs as immunomodulatory agents. Trends in Molecular Medicine. 2002;8:174–179
  65. Nagpal S, Na S, Rathnachalam R. Noncalcemic actions of vitamin D receptor ligands. Endocrine Reviews. 2005;26:662–687
  66. Stoffels K, Overbergh L, Giulietti A, et al. Immune regulation of 25-hydroxyvitamin-D3-1alpha-hydroxylase in human monocytes. Journal of Bone and Mineral Research. 2006;21:37–47
  67. Mathieu C, Van Etten E, Gysemans C, et al. In vitro and in vivo analysis of the immune system of vitamin D receptor knockout mice. Journal of Bone and Mineral Research. 2001;16:2057–2065
  68. Gombart AF, Borregaard N, Koeffler HP. Human cathelicidin antimicrobial peptide (CAMP) gene is a direct target of the vitamin D receptor and is strongly up-regulated in myeloid cells by 1,25-dihydroxyvitamin D3. The FASEB Journal. 2005;19:1067–1077
  69. Liu PT, Stenger S, Li H, et al. Toll-like receptor triggering of a vitamin D-mediated human antimicrobial response. Science. 2006;311:1770–1773
  70. Mathieu C, Gysemans C, Giulietti A, et al. Vitamin D and diabetes. Diabetologia. 2005;48:1247–1257
  71. O'Kelly J, Hisatake J, Hisatake Y, et al. Normal myelopoiesis but abnormal T lymphocyte responses in vitamin D receptor knockout mice. The Journal of Clinical Investigation. 2002;109:1091–1099
  72. Froicu M, Weaver V, Wynn TA, et al. A crucial role for the vitamin D receptor in experimental inflammatory bowel diseases. Molecular Endocrinology. 2003;17:2386–2392
  73. Bouillon R, Eelen G, Verlinden L et al. Vitamin D and cancer. J Steroid Biochem Mol Biol [in press].
  74. Garland CF, Garland FC, Gorham ED, et al. The role of vitamin D in cancer prevention. American Journal of Public Health. 2006;96:252–261
  75. Welsh J. Vitamin D and breast cancer: insights from animal models. The American Journal of Clinical Nutrition. 2004;80:1721S–1724S
  76. Li YC, Kong J, Wei M, et al. 1,25-Dihydroxyvitamin D(3) is a negative endocrine regulator of the renin-angiotensin system. The Journal of Clinical Investigation. 2002;110:229–238
  77. Li YC. Vitamin D and the Renin-Angiotensin System. In:  Feldman D,  Pike JW,  Glorieux H editor. Vitamin D. 2nd edn. San Diego: Elsevier Academic Press; 2005;p. 871–881
  78. Wu-Wong JR, Tian J, Nakane M, et al. Cardiovascular disease in chronic kidney failure: the role of VDR activators. Current Opinion in Investigational Drugs. 2006;7:206–213
  79. Aihara K, Azuma H, Akaike M, et al. Disruption of nuclear vitamin D receptor gene causes enhanced thrombogenicity in mice. The Journal of Biological Chemistry. 2004;279:35798–35802
  80. Ohsawa M, Koyama T, Yamamoto K, et al. 1alpha, 25-dihydroxyvitamin D(3) and its potent synthetic analogs downregulate tissue factor and upregulate thrombomodulin expression in monocytic cells, counteracting the effects of tumor necrosis factor and oxidized LDL. Circulation. 2000;102:2867–2872
  81. Teng M, Wolf M, Lowrie E, et al. Survival of patients undergoing hemodialysis with paricalcitol or calcitriol therapy. The New England Journal of Medicine. 2003;349:446–456
  82. Demay M. Muscle: a nontraditional 1,25-dihydroxyvitamin D target tissue exhibiting classic hormone-dependent vitamin D receptor actions. Endocrinology. 2003;144:5135–5137
  83. Endo I, Inoue D, Mitsui T, et al. Deletion of vitamin D receptor gene in mice results in abnormal skeletal muscle development with deregulated expression of myoregulatory transcription factors. Endocrinology. 2003;144:5138–5144
  84. Makishima M, Lu TT, Xie W, et al. Vitamin D receptor as an intestinal bile acid sensor. Science. 2002;296:1313–1316
  85. Zinser GM, Welsh J. Vitamin D receptor status alters mammary gland morphology and tumorigenesis in MMTV-neu mice. Carcinogenesis. 2004;25:2361–2372
  86. Wang TT, Nestel FP, Bourdeau V, et al. Cutting edge: 1,25-dihydroxyvitamin D3 is a direct inducer of antimicrobial peptide gene expression. Journal of Immunology. 2004;173:2909–2912
  87. Honjo Y, Sasaki S, Kobayashi Y, et al. 1,25-dihydroxyvitamin D3 and its receptor inhibit the chenodeoxycholic acid-dependent transactivation by farnesoid X receptor. The Journal of Endocrinology. 2006;188:635–643
  88. McCarthy TC, Li X, Sinal CJ. Vitamin D receptor-dependent regulation of colon multidrug resistance-associated protein 3 gene expression by bile acids. The Journal of Biological Chemistry. 2005;280:23232–23242
  89. Song CS, Echchgadda I, Seo YK, et al. An essential role of the CAAT/enhancer binding protein-alpha in the vitamin D-induced expression of the human steroid/bile acid-sulfotransferase (SULT2A1). Molecular Endocrinology. 2006;20:795–808

PII: S1521-690X(06)00079-0

doi: 10.1016/j.beem.2006.09.008

Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 4 , Pages 627-645 , December 2006

Article Tools

* Image Usage & Resolution