227 related articles for article (PubMed ID: 25147982)
1. A humanized mouse model of hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Lee SM; Goellner JJ; O'Brien CA; Pike JW
Endocrinology; 2014 Nov; 155(11):4137-48. PubMed ID: 25147982
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. The vitamin D receptor functions as a transcription regulator in the absence of 1,25-dihydroxyvitamin D
Lee SM; Pike JW
J Steroid Biochem Mol Biol; 2016 Nov; 164():265-270. PubMed ID: 26323657
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Malloy PJ; Wang J; Peng L; Nayak S; Sisk JM; Thompson CC; Feldman D
Arch Biochem Biophys; 2007 Apr; 460(2):285-92. PubMed ID: 17078924
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. The impact of VDR expression and regulation in vivo.
Lee SM; Meyer MB; Benkusky NA; O'Brien CA; Pike JW
J Steroid Biochem Mol Biol; 2018 Mar; 177():36-45. PubMed ID: 28602960
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. The role of vitamin D receptor mutations in the development of alopecia.
Malloy PJ; Feldman D
Mol Cell Endocrinol; 2011 Dec; 347(1-2):90-6. PubMed ID: 21693169
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.
Faiyaz-Ul-Haque M; AlDhalaan W; AlAshwal A; Bin-Abbas BS; AlSagheir A; Alotaiby M; Rafiq Z; Zaidi SHE
J Pediatr Endocrinol Metab; 2018 Aug; 31(8):861-868. PubMed ID: 29949513
[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 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]
15. 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]
16. 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]
17. 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]
18. Hereditary vitamin D-resistant rickets presenting as alopecia.
Casey G; McPherson T; Kini U; Ryan F; Taibjee SM; Moss C; Burge S
Pediatr Dermatol; 2014; 31(4):519-20. PubMed ID: 24917549
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]