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REFERENCES

  • 1
    Haussler MR, Whitfield GK, Haussler CA, Hsieh J, Thompson PD, Selznick SH, Dominguez CE, Jurutka PW 1998 The nuclear vitamin D receptor: Biological and molecular regulatory properties revealed. J Bone Miner Res 13: 325349.
  • 2
    Malloy PJ, Pike JW, Feldman D 1999 The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocr Rev 20: 156188.
  • 3
    Rachez C, Freedman LP 2000 Mechanisms of gene regulation by vitamin D3 receptor: A network of coactivator interactions. Gene 246: 921.
  • 4
    Rochel N, Wurtz JM, Mitschler A, Klaholz B, Moras D 2000 The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand. Mol Cell 5: 173179.
  • 5
    Hughes MR, Malloy PJ, Kieback DG, Kesterson RA, Pike JW, Feldman D, O'Malley BW 1988 Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242: 17021705.
  • 6
    Saijo T, Ito M, Takeda E, Huq AH, Naito E, Yokota I, Sone T, Pike JW, Kuroda Y 1991 A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: Utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am J Hum Genet 49: 668673.
  • 7
    Sone T, Marx SJ, Liberman UA, Pike JW 1990 A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3. Mol Endocrinol 4: 623631.
  • 8
    Malloy PJ, Weisman Y, Feldman D 1994 Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain. J Clin Endocrinol Metab 78: 313316.
  • 9
    Lin NU-T, Malloy PJ, Sakati N, Al-Ashwal A, Feldman D 1996 A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D resistant rickets. J Clin Endocrinol Metab 81: 25642569.
  • 10
    Kristjansson K, Rut AR, Hewison M, O'Riordan JL, Hughes MR 1993 Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. J Clin Invest 92: 1216.
  • 11
    Whitfield GK, Selznick SH, Haussler CA, Hsieh JC, Galligan MA, Jurutka PW, Thompson PD, Lee SM, Zerwekh JE, Haussler MR 1996 Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: Point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. Mol Endocrinol 10: 16171631.
  • 12
    Malloy PJ, Eccleshall TR, Gross C, Van Maldergem L, Bouillon R, Feldman D 1997 Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. J Clin Invest 99: 297304.
  • 13
    Malloy PJ, Zhu W, Zhao XY, Pehling GB, Feldman D 2001 A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets. Mol Genet Metab 73: 138148.
  • 14
    Malloy PJ, Xu R, Peng L, Clark PA, Feldman D 2002 A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Mol Endocrinol 16: 25382546.
  • 15
    Hewison M, Rut AR, Kristjansson K, Walker RE, Dillon MJ, Hughes MR, O'Riordan JL 1993 Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene. Clin Endocrinol 39: 663670.
  • 16
    Chen H, Hewison M, Hu B, Adams JS 2003 Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: A cause of vitamin D resistance. Proc Natl Acad Sci USA 100: 61096114.
  • 17
    Malloy PJ, Hochberg Z, Tiosano D, Pike JW, Hughes MR, Feldman D 1990 The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. J Clin Invest 86: 20712079.
  • 18
    Bradford MM 1976 A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal Biochem 72: 248254.
  • 19
    Nguyen TM, Adiceam P, Kottler ML, Guillozo H, Rizk-Rabin M, Brouillard F, Lagier P, Palix C, Garnier JM, Garabedian M 2002 Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D. J Bone Miner Res 17: 17281737.
  • 20
    Kroger H, Kotaniemi A, Vainio P, Alhava E 1992 Bone densitometry of the spine and femur in children by dual-energy X-ray absorptiometry. Bone Miner 17: 7585.