BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

352 related articles for article (PubMed ID: 8796143)

  • 21. 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]  

  • 22. 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; 68(2):263-9. PubMed ID: 2537329
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families.
    Ritchie HH; Hughes MR; Thompson ET; Malloy PJ; Hochberg Z; Feldman D; Pike JW; O'Malley BW
    Proc Natl Acad Sci U S A; 1989 Dec; 86(24):9783-7. PubMed ID: 2557627
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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; 111(1):33-40. PubMed ID: 24246681
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Defective binding and function of 1,25-dihydroxyvitamin D3 receptors in peripheral mononuclear cells of patients with end-organ resistance to 1,25-dihydroxyvitamin D.
    Koren R; Ravid A; Liberman UA; Hochberg Z; Weisman Y; Novogrodsky A
    J Clin Invest; 1985 Nov; 76(5):2012-5. PubMed ID: 2997300
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Bone disease with vitamin D receptor abnormality].
    Tokita A; Hisada K; Nishizawa K
    Nihon Rinsho; 2002 Feb; 60(2):385-90. PubMed ID: 11857931
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Lipopolysaccharide negatively modulates vitamin D action by down-regulating expression of vitamin D-induced VDR in human monocytic THP-1 cells.
    Pramanik R; Asplin JR; Lindeman C; Favus MJ; Bai S; Coe FL
    Cell Immunol; 2004; 232(1-2):137-43. PubMed ID: 15876428
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers.
    Nicolaidou P; Papadopoulou A; Matsinos YG; Georgouli H; Fretzayas A; Papadimitriou A; Priftis K; Douros K; Chrousos GP
    Horm Res; 2007; 67(4):179-83. PubMed ID: 17106204
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.
    Shao L; Liu L; Miao Z; Ren H; Wang W; Lang Y; Yue S; Chen N
    Am J Nephrol; 2008; 28(6):900-7. PubMed ID: 18580052
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
    Zhang DL; Ji L; Li YD
    Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3.
    Griffin JE; Zerwekh JE
    J Clin Invest; 1983 Oct; 72(4):1190-9. PubMed ID: 6313754
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Antisense inhibition of vitamin D receptor expression induces apoptosis in monoblastoid U937 cells.
    Hewison M; Dabrowski M; Vadher S; Faulkner L; Cockerill FJ; Brickell PM; O'Riordan JL; Katz DR
    J Immunol; 1996 Jun; 156(11):4391-400. PubMed ID: 8666812
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.