Citations for
1GC, VDR
Different VDR, VDBP genotypes and vitamin D levels may effect obstructive sleep apnea syndrome.
Kirac D, Yagcioglu Yassa O, Gezmis H, Mayda Domac SF, Altunok EC, Genc E.
Cell Mol Biol (Noisy-le-grand) 65(1):46-51. 2019
2RIPK1, VDR
RIPK1 binds to vitamin D receptor and decreases vitamin D-induced growth suppression.
Quarni W, Lungchukiet P, Tse A, Wang P, Sun Y, Kasiappan R, Wu JY, Zhang X, Bai W.
J Steroid Biochem Mol Biol Steroid Biochem Mol Biol. 2017 Feb 1. pii: S0960-0760(17)30034-1. doi: 10.1016/j.jsbmb.2017.01.024. [Epub ahead of print] 2017
3GC, VDR
GC and VDR SNPs and Vitamin D Levels in Parkinson's Disease: The Relevance to Clinical Features.
Gezen-Ak D, Alaylıoğlu M, Genç G, Gündüz A, Candaş E, Bilgiç B, Atasoy İL, Apaydın H, Kızıltan G, Gürvit H, Hanağası H, Ertan S, Yılmazer S, Dursun E.
Neuromolecular Med 19(1):24-40. doi: 10.1007/s12017-016-8415-9. Epub 2016 Jun 9. Erratum in: Neuromolecular Med. 2017 Mar;19(1):175-180. 2017
4ELOVL3, VDR
Vitamin D Regulates Fatty Acid Composition in Subcutaneous Adipose Tissue Through Elovl3.
Ji L, Gupta M, Feldman BJ.
Endocrinology 157(1):91-7. doi: 10.1210/en.2015-1674. Epub 2015 Oct 21. 2016
5VDR
Vitamin D receptor regulates TGF-β signalling in systemic sclerosis.
Zerr P, Vollath S, Palumbo-Zerr K, Tomcik M, Huang J, Distler A, Beyer C, Dees C, Gela K, Distler O, Schett G, Distler JH.
Ann Rheum Dis 74(3):e20. doi: 10.1136/annrheumdis-2013-204378. Epub 2014 Jan 21. 2015
6CYP7A1, NR0B2, VDR
Vitamin D receptor activation down-regulates the small heterodimer partner and increases CYP7A1 to lower cholesterol.
Chow EC, Magomedova L, Quach HP, Patel R, Durk MR, Fan J, Maeng HJ, Irondi K, Anakk S, Moore DD, Cummins CL, Pang KS.
Gastroenterology 146(4):1048-59. doi: 10.1053/j.gastro.2013.12.027. Epub 2013 Dec 21. 2014
7SOST, VDR
Expression of fibroblast growth factor 23, vitamin D receptor, and sclerostin in bone tissue from hypercalciuric stone formers.
Menon VB, Moysés RM, Gomes SA, de Carvalho AB, Jorgetti V, Heilberg IP.
Clin J Am Soc Nephrol 9(7):1263-70. doi: 10.2215/CJN.10030913. Epub 2014 Apr 24. 2014
8VDR, VDRA
Hereditary vitamin D-resistant rickets presenting as alopecia.
Casey G, McPherson T, Kini U, Ryan F, Taibjee SM, Moss C, Burge S.
Pediatr Dermatol 31(4):519-20. doi: 10.1111/pde.12327. Epub 2014 Jun 11. 2014
9VDR
Vitamin D up-regulates the vitamin D receptor by protecting it from proteasomal degradation in human CD4+ T cells.
Kongsbak M, von Essen MR, Boding L, Levring TB, Schjerling P, Lauritsen JP, Woetmann A, Ĝdum N, Bonefeld CM, Geisler C.
PLoS One 9(5):e96695. doi: 10.1371/journal.pone.0096695. eCollection 2014. 2014
10VDR
Characterization of genomic vitamin D receptor binding sites through chromatin looping and opening.
Seuter S, Neme A, Carlberg C.
PLoS One 9(4):e96184. doi: 10.1371/journal.pone.0096184. eCollection 2014. 2014
11DKKL1, HR, SOSTDC1, VDR
Vitamin D receptor-mediated control of Soggy, Wise, and Hairless gene expression in keratinocytes.
Hsieh JC, Estess RC, Kaneko I, Whitfield GK, Jurutka PW, Haussler MR.
J Endocrinol 220(2):165-78. doi: 10.1530/JOE-13-0212. Print 2014 Feb. 2014
12VDR
Association of polymorphisms in the vitamin D receptor promoter with idiopathic short stature.
Choi SK, Park MS, Song JK, Yoon KS, Yoon KL, Shim KS.
J Korean Med Sci 28(9):1329-33. doi: 10.3346/jkms.2013.28.9.1329. Epub 2013 Aug 28. 2013
13IGFBP3, VDR
Insulin-like growth factor binding protein-3 modulates osteoblast differentiation via interaction with vitamin D receptor.
Li J, Jin D, Fu S, Mei G, Zhou J, Lei L, Yu B, Wang G.
Biochem Biophys Res Commun 436(4):632-7. doi: 10.1016/j.bbrc.2013.04.111. Epub 2013 Jun 11. 2013
14IKBKB, VDR
Vitamin D receptor inhibits nuclear factor κB activation by interacting with IκB kinase β protein.
Chen Y, Zhang J, Ge X, Du J, Deb DK, Li YC.
J Biol Chem 288(27):19450-8. doi: 10.1074/jbc.M113.467670. Epub 2013 May 13. 2013
15VDR
The vitamin D receptor in dopamine neurons; its presence in human substantia nigra and its ontogenesis in rat midbrain.
Cui X, Pelekanos M, Liu PY, Burne TH, McGrath JJ, Eyles DW.
Neuroscience 236:77-87. doi: 10.1016/j.neuroscience.2013.01.035. Epub 2013 Jan 25. 2013
16MYC, VDR
Vitamin D receptor as a master regulator of the c-MYC/MXD1 network.
Salehi-Tabar R, Nguyen-Yamamoto L, Tavera-Mendoza LE, Quail T, Dimitrov V, An BS, Glass L, Goltzman D, White JH.
Proc Natl Acad Sci U S A 109(46):18827-32. doi: 10.1073/pnas.1210037109. Epub 2012 Oct 29. 2012
17VDR
Structure of the full human RXR/VDR nuclear receptor heterodimer complex with its DR3 target DNA.
Orlov I, Rochel N, Moras D, Klaholz BP.
EMBO J 31(2):291-300. doi: 10.1038/emboj.2011.445. Epub 2011 Dec 16. 2012
18VDR
The hair cycle and Vitamin D receptor.
Demay MB.
Arch Biochem Biophys 523(1):19-21. doi: 10.1016/j.abb.2011.10.002. Epub 2011 Oct 7. Review. 2012
19GC, NADSYN1, VDR
Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children.
Kitanaka S, Isojima T, Takaki M, Numakura C, Hayasaka K, Igarashi T.
Endocr J 59(11):1007-14. Epub 2012 Jul 8. 2012
20VDR
Deletion of vitamin D receptor leads to premature emphysema/COPD by increased matrix metalloproteinases and lymphoid aggregates formation.
Sundar IK, Hwang JW, Wu S, Sun J, Rahman I.
Biochem Biophys Res Commun 406(1):127-33. Epub 2011 Feb 12. 2011
21VDR
Vitamin D receptor controls expression of the anti-aging klotho gene in mouse and human renal cells.
Forster RE, Jurutka PW, Hsieh JC, Haussler CA, Lowmiller CL, Kaneko I, Haussler MR, Kerr Whitfield G.
Biochem Biophys Res Commun 414(3):557-62. Epub 2011 Oct 1. 2011
22LEF1, VDR
Lymphoid enhancer-binding factor-1 (LEF1) interacts with the DNA-binding domain of the vitamin D receptor.
Luderer HF, Gori F, Demay MB.
J Biol Chem 286(21):18444-51. Epub 2011 Apr 6. 2011
23MED1, VDR
Essential role of Mediator subunit Med1 in invariant natural killer T-cell development.
Yue X, Izcue A, Borggrefe T.
Proc Natl Acad Sci U S A 108(41):17105-10. Epub 2011 Sep 26. 2011
24HR, VDR
Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function.
Mi Y, Zhang Y, Shen YF.
Biochim Biophys Acta 1812(12):1675-80. doi: 10.1016/j.bbadis.2011.09.015. Epub 2011 Sep 29. 2011
25VDR, VDRA
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 99(1):72-9. Epub .PMID: 19815438 2010
26CYP3A4, VDR
Intestinal cell-specific vitamin D receptor (VDR)-mediated transcriptional regulation of CYP3A4 gene.
Pavek P, Pospechova K, Svecova L, Syrova Z, Stejskalova L, Blazkova J, Dvorak Z, Blahos J.
Biochem Pharmacol 79(2):277-87. Epub 2009 Aug 25.PMID: 19712670 2010
27ESR1, ESR2, LRP4, LRP5, SOST, TNFRSF11A, TNFRSF11B, TNFSF11, VDR, WLS
Genetics of osteoporosis: accelerating pace in gene identification and validation.
Li WF, Hou SX, Yu B, Li MM, Férec C, Chen JM.
Hum Genet 127(3):249-85. Epub 2009 Dec 12. Review.PMID: 20101412 2010
28CAV3, VDR
Membrane localization, Caveolin-3 association and rapid actions of vitamin D receptor in cardiac myocytes.
Zhao G, Simpson RU.
Steroids 75(8-9):555-9. Epub 2009 Dec 14.PMID: 20015453 2010
29NCOR2, VDR
A role of helix 12 of the vitamin D receptor in SMRT corepressor interaction.
Kim JY, Son YL, Lee YC.
Biochem Biophys Res Commun 379(3):780-4. Epub 2009 Jan 6. 2009
30NCOA2, NCOA3, VDR
Vitamin D receptor and coactivators SRC2 and 3 regulate epidermis-specific sphingolipid production and permeability barrier formation.
Oda Y, Uchida Y, Moradian S, Crumrine D, Elias PM, Bikle DD.
J Invest Dermatol 129(6):1367-78. Epub 2008 Dec 4. 2009
31NUP214, VDR
Oncogenic nucleoporin CAN/Nup214 interacts with vitamin D receptor and modulates its function.
Miyauchi Y, Sakaguchi N, Okada T, Makishima M, Ozono K, Michigami T.
J Cell Biochem 106(6):1090-101. doi: 10.1002/jcb.22101. 2009
32AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
33VDR
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA.
Br J Dermatol 158(1):168-71. Epub 2007 Oct 26. No abstract available. PMID: 17970811 2008
34VDR
FokI polymorphism of the vitamin D receptor gene correlates with parameters of bone mass and turnover in a female population of the Italian island of Lampedusa.
Falchetti A, Sferrazza C, Cepollaro C, Gozzini A, Del Monte F, Masi L, Napoli N, Di Fede G, Cannone V, Cusumano G, Pandolfo MC, Rini GB, Tanini A, Brandi ML.
Calcif Tissue Int 80(1):15-20. Epub 2006 Dec 8. 2007
35DPT, VDR
Histamine receptor H1 and dermatopontin: new downstream targets of the vitamin D receptor.
Pochampally RR, Ylostalo J, Penfornis P, Matz RR, Smith JR, Prockop DJ.
J Bone Miner Res 22(9):1338-49. 2007
36VDR
Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
Dempfle A, Wudy SA, Saar K, Hagemann S, Friedel S, Scherag A, Berthold LD, Alzen G, Gortner L, Blum WF, Hinney A, Nurnberg P, Schafer H, Hebebrand J.
Hum Mol Genet 15(18):2772-83. Epub 2006 Aug 11. 2006
37VDR, KLK3
Association of vitamin D receptor FokI polymorphism with prostate cancer risk, clinicopathological features and recurrence of prostate specific antigen after radical prostatectomy.
Huang SP, Huang CY, Wu WJ, Pu YS, Chen J, Chen YY, Yu CC, Wu TT, Wang JS, Lee YH, Huang JK, Huang CH, Wu MT.
Int J Cancer 119(8):1902-7. 2006
38VDR
Vitamin D receptor gene polymorphisms are linked to and associated with adult height.
Xiong DH, Xu FH, Liu PY, Shen H, Long JR, Elze L, Recker RR, Deng HW.
J Med Genet 42(3):228-34. 2005
39VDR
Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study.
Fang Y, van Meurs JB, d'Alesio A, Jhamai M, Zhao H, Rivadeneira F, Hofman A, van Leeuwen JP, Jehan F, Pols HA, Uitterlinden AG.
Am J Hum Genet 77(5):807-23. Epub 2005 Sep 26. 2005
40SNAI1, CDH1, VDR, ZEB1
E-cadherin and vitamin D receptor regulation by SNAIL and ZEB1 in colon cancer: clinicopathological correlations.
Pena C, Garcia JM, Silva J, Garcia V, Rodriguez R, Alonso I, Millan I, Salas C, de Herreros AG, Munoz A, Bonilla F.
Hum Mol Genet 14(22):3361-70. Epub 2005 Oct 3. 2005
41VDR
Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein-DNA complex formation and are associated with height and vitamin D status in adolescent girls.
d'Alesio A, Garabedian M, Sabatier JP, Guaydier-Souquieres G, Marcelli C, Lemacon A, Walrant-Debray O, Jehan F.
Hum Mol Genet 14(22):3539-48. Epub 2005 Oct 6. 2005
42SNAI2, VDR
The transcription factor SNAIL represses vitamin D receptor expression and responsiveness in human colon cancer.
Palmer HG, Larriba MJ, Garcia JM, Ordonez-Moran P, Pena C, Peiro S, Puig I, Rodriguez R, De La Fuente R, Bernad A, Pollan M, Bonilla F, Gamallo C, De Herreros AG, Munoz A.
Nat Med 10(9):917-9. Epub 2004 Aug 22. 2004
43VDR
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 73(2):138-48. 2001
44VDR, VDRA
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.
Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, Christiano AM, Holick M, Cotsarelis G.
J Invest Dermatol 117(3):612-7. 2001
45ADRA2A, ADRB1, AGTR1, CAFG, CD36, CETP, CSF1, CSF2, CYP11B2, ECE1, EDN1, EDNRA, EDNRB, EGR1, F2R, FGA, FGB, FHBL1, HGF, ICAM1, IGF1, IL1A, IL6, LPA, MGP, MSR1, MTTP, NOS2, NOS3, PDGFA, PDGFRA, SELP, TGFB1, TNF, VCAM1, VDR
Sequence diversity in 36 candidate genes for cardiovascular disorders.
Cambien F, Poirier O, Nicaud V, Herrmann SM, Mallet C, Ricard S, Behague I, Hallet V, Blanc H, Loukaci V, Thillet J, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L.
Am J Hum Genet 65(1):183-91. 1999
46ESR1, VDR
Change of bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes.
Deng HW, et al.
Hum Genet 103 : 576-585. 1998
47VDR
The role of the T-box for the function of the vitamin D receptor on different types of response elements.
Quack M, Szafranski K, Rouvinen J, Carlberg C.
Nucleic Acids Res 26(23):5372-8. 1998
48VDR
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, et al.
J Clin Invest 99 : 297-304. 1997
49VDR
Structural organization of the human vitamin D receptor chromosomal gene and its promoter.
Miyamoto K, Kesterson RA, Yamamoto H, Taketani Y, Nishiwaki E, Tatsumi S, Inoue Y, Morita K, Takeda E, Pike JW.
Mol Endocrinol 11(8):1165-79. 1997
50VDR
Vitamin D-receptor gene polymorphisms and bone density in prepubertal american girls of mexican descent.
Sainz J, Van Tornout JM, Loro ML, Sayre J, Roe TF, Gilsanz V.
N Engl J Med 337(2):77-82. 1997
51VDR, VDDR2
Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.
Cockerill FJ, Hawa NS, Yousaf N, Hewison M, O'Riordan JL, Farrow SM.
J Clin Endocrinol Metab 82(9):3156-60. 1997
52VDR
A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets.
Mechica JB, Leite MO, Mendonca BB, Frazzatto ES, Borelli A, Latronico AC.
J Clin Endocrinol Metab 82(11):3892-4. 1997
53VDR, VDDR2
A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Lin NUT, et al.
J Clin Endocrinol Metab 81 : 2564-2569. 1996
54VDR
Human vitamin D receptor phosphorylation by casein kinase II at Ser-208 potentiates transcriptional activation.
Jurutka PW, Hsieh JC, Nakajima S, Haussler CA, Whitfield GK, Haussler MR.
Proc Natl Acad Sci U S A 93(8):3519-24. 1996
55VDR
Vitamin D-dependent rickets type II : regulation of human osteocalcin gene expression in cells with defective vitamin D receptors by 1,25-dihydroxyvitamin D-3, retinoic acid, and triiodothyronine.
Takeda E, et al.
Biochim Biophys Acta 1227 : 195-199. 1994
56PDDR, VDR, CYP24A1
Human 25-hydroxyvitamin-D 24-hydroxylase cytochrome-P450 subunit maps to a different chromosomal location than that of pseudovitamin D deficient rickets.
Labuda M, et al.
J Bone Miner Res 8 : 1397-1406. 1993
57VDR, VDDR2
Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.
Kristjansson K, et al.
J Clin Invest 92 : 12-16. 1993
58PDDR, VDR
Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14.
Labuda M, et al.
J Bone Miner Res 7 : 1447-1453. 1992
59VDR, VDDR2
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II : utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.
Saijo T, et al.
Am J Hum Genet 49 : 668-673. 1991
60VDR
A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxivitamin D3.
Sone T, et al.
Mol Endocrinol 4 : 623-631. 1990
61VDR
The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families.
Malloy PJ, et al.
J Clin Invest 86 : 2071-2079. 1990
62VDR
ApaI dimorphism at the human vitamin D receptor gene locus.
Faraco JH, et al.
Nucleic Acids Res 17 : 2150. 1989
63VDR
Mutant vitamin D receptors which confer hereditary resistance to 1,25-dihydroxyvitamin D3 in humans are transcriptionally inactive in vitro.
Sone T, et al.
J Biol Chem 264 : 20230-20234. 1989
64VDR
An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families.
Ritchie HH, et al.
Proc Natl Acad Sci U S A 86 : 9783-9787. 1989
65VDR
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.
Hughes MR, Malloy PJ, Kieback DG, Kesterson RA, Pike JW, Feldman D, O'Malley BW.
Science 242 : 1702-1705. 1988