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Journal Abstract Search

277 related items for PubMed ID: 19815438

  • 1. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor.
    Malloy PJ, Wang J, Srivastava T, Feldman D.
    Mol Genet Metab; 2010 Jan; 99(1):72-9. PubMed ID: 19815438
    [Abstract] [Full Text] [Related]

  • 2. A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets.
    Malloy PJ, Zhu W, Zhao XY, Pehling GB, Feldman D.
    Mol Genet Metab; 2001 Jun; 73(2):138-48. PubMed ID: 11386849
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Malloy PJ, Xu R, Peng L, Clark PA, Feldman D.
    Mol Endocrinol; 2002 Nov; 16(11):2538-46. PubMed ID: 12403843
    [Abstract] [Full Text] [Related]

  • 4. Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.
    Zhou Y, Wang J, Malloy PJ, Dolezel Z, Feldman D.
    J Bone Miner Res; 2009 Apr; 24(4):643-51. PubMed ID: 19049339
    [Abstract] [Full Text] [Related]

  • 5. Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor.
    Zhu W, Malloy PJ, Delvin E, Chabot G, Feldman D.
    J Bone Miner Res; 1998 Feb; 13(2):259-64. PubMed ID: 9495519
    [Abstract] [Full Text] [Related]

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  • 7. A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
    Malloy PJ, Xu R, Cattani A, Reyes mL, Feldman D.
    J Bone Miner Res; 2004 Jun; 19(6):1018-24. PubMed ID: 15190891
    [Abstract] [Full Text] [Related]

  • 8. Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.
    Malloy PJ, Xu R, Peng L, Peleg S, Al-Ashwal A, Feldman D.
    Endocrinology; 2004 Nov; 145(11):5106-14. PubMed ID: 15308610
    [Abstract] [Full Text] [Related]

  • 9. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.
    Malloy PJ, Zhou Y, Wang J, Hiort O, Feldman D.
    J Bone Miner Res; 2011 Nov; 26(11):2710-8. PubMed ID: 21812032
    [Abstract] [Full Text] [Related]

  • 10. Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D.
    Nguyen TM, Adiceam P, Kottler ML, Guillozo H, Rizk-Rabin M, Brouillard F, Lagier P, Palix C, Garnier JM, Garabedian M.
    J Bone Miner Res; 2002 Sep; 17(9):1728-37. PubMed ID: 12211444
    [Abstract] [Full Text] [Related]

  • 11. Enhanced coactivator binding and transcriptional activation of mutant vitamin D receptors from patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets by phosphorylation and vitamin D analogs.
    Liu Y, Shen Q, Malloy PJ, Soliman E, Peng X, Kim S, Pike JW, Feldman D, Christakos S.
    J Bone Miner Res; 2005 Sep; 20(9):1680-91. PubMed ID: 16059639
    [Abstract] [Full Text] [Related]

  • 12. Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.
    Nguyen M, d'Alesio A, Pascussi JM, Kumar R, Griffin MD, Dong X, Guillozo H, Rizk-Rabin M, Sinding C, Bougnères P, Jehan F, Garabédian M.
    J Bone Miner Res; 2006 Jun; 21(6):886-94. PubMed ID: 16753019
    [Abstract] [Full Text] [Related]

  • 13. 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.
    Malloy PJ, Eccleshall TR, Gross C, Van Maldergem L, Bouillon R, Feldman D.
    J Clin Invest; 1997 Jan 15; 99(2):297-304. PubMed ID: 9005998
    [Abstract] [Full Text] [Related]

  • 14. A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
    Malloy PJ, Zhu W, Bouillon R, Feldman D.
    Mol Genet Metab; 2002 Dec 15; 77(4):314-8. PubMed ID: 12468277
    [Abstract] [Full Text] [Related]

  • 15. Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
    Malloy PJ, Tasic V, Taha D, Tütüncüler F, Ying GS, Yin LK, Wang J, Feldman D.
    Mol Genet Metab; 2014 Jan 15; 111(1):33-40. PubMed ID: 24246681
    [Abstract] [Full Text] [Related]

  • 16. Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.
    Tseng MH, Huang SM, Lo FS, Huang JL, Cheng CJ, Lee HJ, Lin SH.
    Sci Rep; 2017 Nov 10; 7(1):15337. PubMed ID: 29127362
    [Abstract] [Full Text] [Related]

  • 17. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
    Lin NU, Malloy PJ, Sakati N, al-Ashwal A, Feldman D.
    J Clin Endocrinol Metab; 1996 Jul 10; 81(7):2564-9. PubMed ID: 8675579
    [Abstract] [Full Text] [Related]

  • 18. Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.
    Rut AR, Hewison M, Kristjansson K, Luisi B, Hughes MR, O'Riordan JL.
    Clin Endocrinol (Oxf); 1994 Nov 10; 41(5):581-90. PubMed ID: 7828346
    [Abstract] [Full Text] [Related]

  • 19. The vitamin D hormone and its nuclear receptor: molecular actions and disease states.
    Haussler MR, Haussler CA, Jurutka PW, Thompson PD, Hsieh JC, Remus LS, Selznick SH, Whitfield GK.
    J Endocrinol; 1997 Sep 10; 154 Suppl():S57-73. PubMed ID: 9379138
    [Abstract] [Full Text] [Related]

  • 20. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.
    Lim LM, Zhao X, Chao MC, Chang JM, Chang WC, Kao HY, Hwang DY, Chen HC.
    PLoS One; 2015 Sep 10; 10(9):e0138152. PubMed ID: 26422470
    [Abstract] [Full Text] [Related]

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