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PUBMED FOR HANDHELDS

Journal Abstract Search

298 related items for PubMed ID: 12211444

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  • 6. 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
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  • 7. 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
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  • 8. The rapid effects of 1,25-dihydroxyvitamin D3 require the vitamin D receptor and influence 24-hydroxylase activity: studies in human skin fibroblasts bearing vitamin D receptor mutations.
    Nguyen TM, Lieberherr M, Fritsch J, Guillozo H, Alvarez ML, Fitouri Z, Jehan F, Garabédian M.
    J Biol Chem; 2004 Feb 27; 279(9):7591-7. PubMed ID: 14665637
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  • 9. 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
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  • 10. 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 15; 19(6):1018-24. PubMed ID: 15190891
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  • 14. Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.
    Malloy PJ, Weisman Y, Feldman D.
    J Clin Endocrinol Metab; 1994 Feb 15; 78(2):313-6. PubMed ID: 8106618
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  • 15. 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 15; 20(9):1680-91. PubMed ID: 16059639
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  • 16. 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 15; 26(11):2710-8. PubMed ID: 21812032
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  • 17. Evidence for 1,25-dihydroxyvitamin D3-independent transactivation by the vitamin D receptor: uncoupling the receptor and ligand in keratinocytes.
    Ellison TI, Eckert RL, MacDonald PN.
    J Biol Chem; 2007 Apr 13; 282(15):10953-62. PubMed ID: 17310066
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  • 20. Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II.
    Malloy PJ, Hochberg Z, Pike JW, Feldman D.
    J Clin Endocrinol Metab; 1989 Feb 13; 68(2):263-9. PubMed ID: 2537329
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