BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 12403843)

  • 1. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 99(2):297-304. PubMed ID: 9005998
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 81(7):2564-9. PubMed ID: 8675579
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 77(4):314-8. PubMed ID: 12468277
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 7(1):15337. PubMed ID: 29127362
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 154 Suppl():S57-73. PubMed ID: 9379138
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
    Yagi H; Ozono K; Miyake H; Nagashima K; Kuroume T; Pike JW
    J Clin Endocrinol Metab; 1993 Feb; 76(2):509-12. PubMed ID: 8381803
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene.
    Hewison M; Rut AR; Kristjansson K; Walker RE; Dillon MJ; Hughes MR; O'Riordan JL
    Clin Endocrinol (Oxf); 1993 Dec; 39(6):663-70. PubMed ID: 8287584
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3).
    Gardezi SA; Nguyen C; Malloy PJ; Posner GH; Feldman D; Peleg S
    J Biol Chem; 2001 Aug; 276(31):29148-56. PubMed ID: 11369766
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two new unrelated cases of hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin D receptor gene.
    Forghani N; Lum C; Krishnan S; Wang J; Wilson DM; Blackett PR; Malloy PJ; Feldman D
    J Pediatr Endocrinol Metab; 2010 Aug; 23(8):843-50. PubMed ID: 21073129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.