메뉴 건너뛰기




Volumn 155, Issue 11, 2014, Pages 4137-4148

A humanized mouse model of hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; LEUCINE; SERINE; 1,25-DIHYDROXYVITAMIN D; CALCITRIOL RECEPTOR; VDR PROTEIN, HUMAN; VITAMIN D;

EID: 84908054269     PISSN: 00137227     EISSN: 19457170     Source Type: Journal    
DOI: 10.1210/en.2014-1417     Document Type: Article
Times cited : (26)

References (63)
  • 1
    • 53849136271 scopus 로고    scopus 로고
    • Vitamin D and human health: Lessons from vitamin D receptor null mice
    • Bouillon R, Carmeliet G, Verlinden L, et al. Vitamin D and human health: lessons from vitamin D receptor null mice. Endocr Rev. 2008;29:726-776.
    • (2008) Endocr Rev , vol.29 , pp. 726-776
    • Bouillon, R.1    Carmeliet, G.2    Verlinden, L.3
  • 2
    • 16244418604 scopus 로고    scopus 로고
    • Overview of general physiologic features and functions of vitamin D
    • DeLuca HF. Overview of general physiologic features and functions of vitamin D. Am J Clin Nutr. 2004;80(6 suppl):1689S-1696S.
    • (2004) Am J Clin Nutr , vol.80 , Issue.6 , pp. 1689S-1696S
    • DeLuca, H.F.1
  • 4
    • 0034455280 scopus 로고    scopus 로고
    • Evaluation of keratinocyte proliferation and differentiation in vitamin D receptor knockout mice
    • Sakai Y, Demay MB. Evaluation of keratinocyte proliferation and differentiation in vitamin D receptor knockout mice. Endocrinology. 2000;141:2043-2049.
    • (2000) Endocrinology , vol.141 , pp. 2043-2049
    • Sakai, Y.1    Demay, M.B.2
  • 7
    • 84901022347 scopus 로고    scopus 로고
    • Impact of vitamin D on immune function: Lessons learned from genome-wide analysis
    • Chun RF, Liu PT, Modlin RL, Adams JS, Hewison M. Impact of vitamin D on immune function: lessons learned from genome-wide analysis. Front Physiol. 2014;5:151.
    • (2014) Front Physiol , vol.5 , pp. 151
    • Chun, R.F.1    Liu, P.T.2    Modlin, R.L.3    Adams, J.S.4    Hewison, M.5
  • 9
    • 80054995630 scopus 로고    scopus 로고
    • Cardiomyocyte-specific deletion of the vitamin D receptor gene results in cardiac hypertrophy
    • Chen S, Law CS, Grigsby CL, et al. Cardiomyocyte-specific deletion of the vitamin D receptor gene results in cardiac hypertrophy. Circulation. 2011;124:1838-1847.
    • (2011) Circulation , vol.124 , pp. 1838-1847
    • Chen, S.1    Law, C.S.2    Grigsby, C.L.3
  • 11
    • 0012473279 scopus 로고
    • The nuclear receptor superfamily: The second decade
    • Mangelsdorf DJ, Thummel C, Beato M, et al. The nuclear receptor superfamily: the second decade. Cell. 1995;83:835-839.
    • (1995) Cell , vol.83 , pp. 835-839
    • Mangelsdorf, D.J.1    Thummel, C.2    Beato, M.3
  • 12
    • 84858154398 scopus 로고    scopus 로고
    • Regulation of target gene expression by the vitamin D receptor - An update on mechanisms
    • Pike JW, Meyer MB, Bishop KA. Regulation of target gene expression by the vitamin D receptor - an update on mechanisms. Rev Endocr Metab Disord. 2012;13:45-55.
    • (2012) Rev Endocr Metab Disord , vol.13 , pp. 45-55
    • Pike, J.W.1    Meyer, M.B.2    Bishop, K.A.3
  • 13
    • 84906790954 scopus 로고    scopus 로고
    • Fundamentals of vitamin D hormone-regulated gene expression
    • published online November 12, 2013
    • Pike JW, Meyer MB. Fundamentals of vitamin D hormone-regulated gene expression [published online November 12, 2013]. J Steroid Biochem Mol Biol. doi:10.1016/j.jsbmb.2013.11.004.
    • J Steroid Biochem Mol Biol
    • Pike, J.W.1    Meyer, M.B.2
  • 14
    • 0029562554 scopus 로고
    • The RXR heterodimers and orphan receptors
    • Mangelsdorf DJ, Evans RM. The RXR heterodimers and orphan receptors. Cell. 1995;83:841-850.
    • (1995) Cell , vol.83 , pp. 841-850
    • Mangelsdorf, D.J.1    Evans, R.M.2
  • 15
    • 1442351143 scopus 로고    scopus 로고
    • Coregulator function: A key to understanding tissue specificity of selective receptor modulators
    • Smith CL, O'Malley BW. Coregulator function: a key to understanding tissue specificity of selective receptor modulators. Endocr Rev. 2004;25:45-71.
    • (2004) Endocr Rev , vol.25 , pp. 45-71
    • Smith, C.L.1    O'Malley, B.W.2
  • 17
    • 84888391035 scopus 로고    scopus 로고
    • VDR attenuates acute lung injury by blocking Ang-2-Tie-2 pathway and renin-angiotensin system
    • Kong J, Zhu X, Shi Y, et al. VDR attenuates acute lung injury by blocking Ang-2-Tie-2 pathway and renin-angiotensin system. Mol Endocrinol. 2013;27:2116-2125.
    • (2013) Mol Endocrinol , vol.27 , pp. 2116-2125
    • Kong, J.1    Zhu, X.2    Shi, Y.3
  • 20
    • 29344450418 scopus 로고    scopus 로고
    • Hairless suppresses vitamin D receptor transactivation in human keratinocytes
    • Xie Z, Chang S, Oda Y, Bikle DD. Hairless suppresses vitamin D receptor transactivation in human keratinocytes. Endocrinology. 2006;147:314-323.
    • (2006) Endocrinology , vol.147 , pp. 314-323
    • Xie, Z.1    Chang, S.2    Oda, Y.3    Bikle, D.D.4
  • 21
    • 77954761161 scopus 로고    scopus 로고
    • Genome-wide analysis of the VDR/RXR cistrome in osteoblast cells provides new mechanistic insight into the actions of the vitamin D hormone
    • Meyer MB, Goetsch PD, Pike JW. Genome-wide analysis of the VDR/RXR cistrome in osteoblast cells provides new mechanistic insight into the actions of the vitamin D hormone. J Steroid Biochem Mol Biol. 2010;121:136-141.
    • (2010) J Steroid Biochem Mol Biol , vol.121 , pp. 136-141
    • Meyer, M.B.1    Goetsch, P.D.2    Pike, J.W.3
  • 22
    • 84855225831 scopus 로고    scopus 로고
    • VDR/RXR and TCF4/β-catenin cistromes in colonic cells of colorectal tumor origin: Impact on c-FOS and c-MYC gene expression
    • Meyer MB, Goetsch PD, Pike JW. VDR/RXR and TCF4/β-catenin cistromes in colonic cells of colorectal tumor origin: impact on c-FOS and c-MYC gene expression. Mol Endocrinol. 2012;26:37-51.
    • (2012) Mol Endocrinol , vol.26 , pp. 37-51
    • Meyer, M.B.1    Goetsch, P.D.2    Pike, J.W.3
  • 24
    • 0018260338 scopus 로고
    • Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D
    • Brooks MH, Bell NH, Love L, et al. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med. 1978;298:996-999.
    • (1978) N Engl J Med , vol.298 , pp. 996-999
    • Brooks, M.H.1    Bell, N.H.2    Love, L.3
  • 25
    • 0018220501 scopus 로고
    • A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D
    • Marx SJ, Spiegel AM, Brown EM, et al. A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. J Clin Endocrinol Metab. 1978;47:1303-1310.
    • (1978) J Clin Endocrinol Metab , vol.47 , pp. 1303-1310
    • Marx, S.J.1    Spiegel, A.M.2    Brown, E.M.3
  • 26
    • 84908031140 scopus 로고    scopus 로고
    • Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
    • Feldman D, Malloy PJ. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets. Bonekey Rep. 2014;3:510.
    • (2014) Bonekey Rep , vol.3 , pp. 510
    • Feldman, D.1    Malloy, P.J.2
  • 27
    • 84884001336 scopus 로고    scopus 로고
    • Genetic disorders of vitamin D synthesis and action
    • Thakker RV, Whyte MP, Eisman J, Igarashi T, eds. San Diego, CA: Elsevier
    • Feldman D, Malloy PJ, Miller WL. Genetic disorders of vitamin D synthesis and action. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, eds. Genetics of Bone Biology and Skeletal Disease. San Diego, CA: Elsevier; 2013:537-552.
    • (2013) Genetics of Bone Biology and Skeletal Disease , pp. 537-552
    • Feldman, D.1    Malloy, P.J.2    Miller, W.L.3
  • 29
    • 0035912707 scopus 로고    scopus 로고
    • Targeted ablation of the 25-hydroxyvitamin D 1α-hydroxylase enzyme: Evidence for skeletal, reproductive, andimmunedysfunction
    • Panda DK, Miao D, Tremblay ML, et al. Targeted ablation of the 25-hydroxyvitamin D 1α-hydroxylase enzyme: evidence for skeletal, reproductive, andimmunedysfunction. Proc Natl Acad Sci USA. 2001;98:7498-7503.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 7498-7503
    • Panda, D.K.1    Miao, D.2    Tremblay, M.L.3
  • 30
    • 0030763857 scopus 로고    scopus 로고
    • Mice lacking the vitamin Dreceptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning
    • Yoshizawa T, Handa Y, Uematsu Y, et al. Mice lacking the vitamin Dreceptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nat Genet. 1997;16:391-396.
    • (1997) Nat Genet , vol.16 , pp. 391-396
    • Yoshizawa, T.1    Handa, Y.2    Uematsu, Y.3
  • 31
    • 0030610422 scopus 로고    scopus 로고
    • Targeted ablation of the vitamin D receptor: An animal model of vitamin D-dependent rickets type II with alopecia
    • Li YC, Pirro AE, Amling M, et al. Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. Proc Natl Acad Sci USA. 1997;94:9831-9835.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 9831-9835
    • Li, Y.C.1    Pirro, A.E.2    Amling, M.3
  • 32
    • 0035818538 scopus 로고    scopus 로고
    • Duodenal calcium absorption in vitamin D receptor-knockout mice: Functional and molecular aspects
    • Van Cromphaut SJ, Dewerchin M, Hoenderop JG, et al. Duodenal calcium absorption in vitamin D receptor-knockout mice: functional and molecular aspects. Proc Natl Acad Sci USA. 2001;98:13324-13329.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 13324-13329
    • Van Cromphaut, S.J.1    Dewerchin, M.2    Hoenderop, J.G.3
  • 33
    • 85047685376 scopus 로고    scopus 로고
    • Deletion of deoxyribonucleic acid binding domain of the vitamin D receptor abrogates genomic and nongenomic functions of vitamin D
    • Erben RG, Soegiarto DW, Weber K, et al. Deletion of deoxyribonucleic acid binding domain of the vitamin D receptor abrogates genomic and nongenomic functions of vitamin D. Mol Endocrinol. 2002;16:1524-1537.
    • (2002) Mol Endocrinol , vol.16 , pp. 1524-1537
    • Erben, R.G.1    Soegiarto, D.W.2    Weber, K.3
  • 34
    • 0035213293 scopus 로고    scopus 로고
    • Targeting expression of the human vitamin D receptor to the keratinocytes of vitamin D receptor null mice prevents alopecia
    • Chen CH, Sakai Y, Demay MB. Targeting expression of the human vitamin D receptor to the keratinocytes of vitamin D receptor null mice prevents alopecia. Endocrinology. 2001;142:5386-5389.
    • (2001) Endocrinology , vol.142 , pp. 5386-5389
    • Chen, C.H.1    Sakai, Y.2    Demay, M.B.3
  • 35
    • 15444367410 scopus 로고    scopus 로고
    • Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis
    • Skorija K, Cox M, Sisk JM, et al. Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis. Mol Endocrinol. 2005;19:855-862.
    • (2005) Mol Endocrinol , vol.19 , pp. 855-862
    • Skorija, K.1    Cox, M.2    Sisk, J.M.3
  • 36
    • 0036226321 scopus 로고    scopus 로고
    • Targeted expression of human vitamin D receptor in the skin promotes the initiation of the postnatal hair follicle cycle and rescues the alopecia in vitamin D receptor null mice
    • Kong J, Li XJ, Gavin D, Jiang Y, Li YC. Targeted expression of human vitamin D receptor in the skin promotes the initiation of the postnatal hair follicle cycle and rescues the alopecia in vitamin D receptor null mice. J Invest Dermatol. 2002;118:631-638.
    • (2002) J Invest Dermatol , vol.118 , pp. 631-638
    • Kong, J.1    Li, X.J.2    Gavin, D.3    Jiang, Y.4    Li, Y.C.5
  • 37
    • 8544221158 scopus 로고    scopus 로고
    • Structural organization of the human vitamin D receptor chromosomal gene and its promoter
    • Miyamoto K, Kesterson RA, Yamamoto H, et al. Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol Endocrinol. 1997;11:1165-1179.
    • (1997) Mol Endocrinol , vol.11 , pp. 1165-1179
    • Miyamoto, K.1    Kesterson, R.A.2    Yamamoto, H.3
  • 38
    • 0030964709 scopus 로고    scopus 로고
    • Cloning and characterization of the mouse vitamin D receptor promoter
    • Jehan F, DeLuca HF. Cloning and characterization of the mouse vitamin D receptor promoter. Proc Natl Acad Sci USA. 1997;94:10138-10143.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 10138-10143
    • Jehan, F.1    DeLuca, H.F.2
  • 41
    • 84901397833 scopus 로고    scopus 로고
    • Mouse and human BAC transgenes recapitulate tissue-specific expression of the vitamin D receptor in mice and rescue the VDR-null phenotype
    • Lee SM, Bishop KA, Goellner JJ, O'Brien CA, Pike JW. Mouse and human BAC transgenes recapitulate tissue-specific expression of the vitamin D receptor in mice and rescue the VDR-null phenotype. Endocrinology. 2014;155:2064-2076.
    • (2014) Endocrinology , vol.155 , pp. 2064-2076
    • Lee, S.M.1    Bishop, K.A.2    Goellner, J.J.3    O'Brien, C.A.4    Pike, J.W.5
  • 43
    • 0026556306 scopus 로고
    • Coupling of dual signaling pathways: Epidermal growth factor action involves the estrogen receptor
    • Ignar-Trowbridge DM, Nelson KG, Bidwell MC, et al. Coupling of dual signaling pathways: epidermal growth factor action involves the estrogen receptor. Proc Natl Acad Sci USA. 1992;89:4658-4662.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4658-4662
    • Ignar-Trowbridge, D.M.1    Nelson, K.G.2    Bidwell, M.C.3
  • 44
    • 0028364282 scopus 로고
    • Insulin-like growth factors activate estrogen receptor to control the growth and differentiation of the human neuroblastoma cell line SK-ER3
    • Ma ZQ, Santagati S, Patrone C, Pollio G, Vegeto E, Maggi A. Insulin-like growth factors activate estrogen receptor to control the growth and differentiation of the human neuroblastoma cell line SK-ER3. Mol Endocrinol. 1994;8:910-918.
    • (1994) Mol Endocrinol , vol.8 , pp. 910-918
    • Ma, Z.Q.1    Santagati, S.2    Patrone, C.3    Pollio, G.4    Vegeto, E.5    Maggi, A.6
  • 45
    • 0028850007 scopus 로고
    • Phosphorylation of the human estrogen receptor by mitogen-activated protein kinase and casein kinase II: Consequence on DNA binding
    • Arnold SF, Obourn JD, Jaffe H, Notides AC. Phosphorylation of the human estrogen receptor by mitogen-activated protein kinase and casein kinase II: consequence on DNA binding. J Steroid Biochem Mol Biol. 1995;55:163-172.
    • (1995) J Steroid Biochem Mol Biol , vol.55 , pp. 163-172
    • Arnold, S.F.1    Obourn, J.D.2    Jaffe, H.3    Notides, A.C.4
  • 46
    • 0032230260 scopus 로고    scopus 로고
    • Divergent pathways regulate ligand-independent activation of ERα in SK-N-BE neuroblastoma and COS-1 renal carcinoma cells
    • Patrone C, Gianazza E, Santagati S, Agrati P, Maggi A. Divergent pathways regulate ligand-independent activation of ERα in SK-N-BE neuroblastoma and COS-1 renal carcinoma cells. Mol Endocrinol. 1998;12:835-841.
    • (1998) Mol Endocrinol , vol.12 , pp. 835-841
    • Patrone, C.1    Gianazza, E.2    Santagati, S.3    Agrati, P.4    Maggi, A.5
  • 47
    • 67650758019 scopus 로고    scopus 로고
    • Androgen receptor regulates a distinct transcription program in androgen-independent prostate cancer
    • Wang Q, Li W, Zhang Y, et al. Androgen receptor regulates a distinct transcription program in androgen-independent prostate cancer. Cell. 2009;138:245-256.
    • (2009) Cell , vol.138 , pp. 245-256
    • Wang, Q.1    Li, W.2    Zhang, Y.3
  • 48
    • 84884798995 scopus 로고    scopus 로고
    • Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor
    • Malloy PJ, Feldman BJ. Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor. Mol Endocrinol. 2013;27:1632-1642.
    • (2013) Mol Endocrinol , vol.27 , pp. 1632-1642
    • Malloy, P.J.1    Feldman, B.J.2
  • 49
    • 84904209872 scopus 로고    scopus 로고
    • 3 in bone cells: Exploiting new approaches and defining new mechanisms
    • 3 in bone cells: exploiting new approaches and defining new mechanisms. Bonekey Rep. 2014;3:482.
    • (2014) Bonekey Rep , vol.3 , pp. 482
    • Pike, J.W.1    Lee, S.M.2    Meyer, M.B.3
  • 50
    • 0037123667 scopus 로고    scopus 로고
    • Vitamin D receptor as an intestinal bile acid sensor
    • Makishima M, Lu TT, Xie W, et al. Vitamin D receptor as an intestinal bile acid sensor. Science. 2002;296:1313-1316.
    • (2002) Science , vol.296 , pp. 1313-1316
    • Makishima, M.1    Lu, T.T.2    Xie, W.3
  • 52
    • 0028979441 scopus 로고
    • 3 upregulates the phosphatidylinositol signaling pathway in human keratinocytes by increasing phospholipase C levels
    • 3 upregulates the phosphatidylinositol signaling pathway in human keratinocytes by increasing phospholipase C levels. J Clin Invest. 1995;96:602-609.
    • (1995) J Clin Invest , vol.96 , pp. 602-609
    • Pillai, S.1    Bikle, D.D.2    Su, M.J.3    Ratnam, A.4    Abe, J.5
  • 53
    • 0030965613 scopus 로고    scopus 로고
    • Cloning of the human phospholipase C-γ1 promoter and identification of a DR6-type vitamin D-responsive element
    • Xie Z, Bikle DD. Cloning of the human phospholipase C-γ1 promoter and identification of a DR6-type vitamin D-responsive element. J Biol Chem. 1997;272:6573-6577.
    • (1997) J Biol Chem , vol.272 , pp. 6573-6577
    • Xie, Z.1    Bikle, D.D.2
  • 54
    • 2342571726 scopus 로고    scopus 로고
    • 25 Hydroxyvitamin D 1α- hydroxylase is required for optimal epidermal differentiation and permeability barrier homeostasis
    • Bikle DD, Chang S, Crumrine D, et al. 25 Hydroxyvitamin D 1α- hydroxylase is required for optimal epidermal differentiation and permeability barrier homeostasis. J Invest Dermatol. 2004;122:984-992.
    • (2004) J Invest Dermatol , vol.122 , pp. 984-992
    • Bikle, D.D.1    Chang, S.2    Crumrine, D.3
  • 55
    • 0036963428 scopus 로고    scopus 로고
    • 3 receptor ablation sensitizes skin to chemically induced tumorigenesis
    • 3 receptor ablation sensitizes skin to chemically induced tumorigenesis. Carcinogenesis. 2002;23:2103-2109.
    • (2002) Carcinogenesis , vol.23 , pp. 2103-2109
    • Zinser, G.M.1    Sundberg, J.P.2    Welsh, J.3
  • 56
    • 80054771107 scopus 로고    scopus 로고
    • Overexpression of hedgehog signaling is associated with epidermal tumor formation in vitamin D receptor-null mice
    • Teichert AE, Elalieh H, Elias PM, Welsh J, Bikle DD. Overexpression of hedgehog signaling is associated with epidermal tumor formation in vitamin D receptor-null mice. J Invest Dermatol. 2011;131:2289-2297.
    • (2011) J Invest Dermatol , vol.131 , pp. 2289-2297
    • Teichert, A.E.1    Elalieh, H.2    Elias, P.M.3    Welsh, J.4    Bikle, D.D.5
  • 57
    • 51749113106 scopus 로고    scopus 로고
    • Inactivation of the vitamin D receptor enhances susceptibility of murine skin to UV-induced tumorigenesis
    • Ellison TI, Smith MK, Gilliam AC, MacDonald PN. Inactivation of the vitamin D receptor enhances susceptibility of murine skin to UV-induced tumorigenesis. J Invest Dermatol. 2008;128:2508-2517.
    • (2008) J Invest Dermatol , vol.128 , pp. 2508-2517
    • Ellison, T.I.1    Smith, M.K.2    Gilliam, A.C.3    MacDonald, P.N.4
  • 61
    • 0019333062 scopus 로고
    • 3 receptors. Differential quantitation of endogenously occupied and unoccupied sites
    • 3 receptors. Differential quantitation of endogenously occupied and unoccupied sites. J Biol Chem. 1980;255:9534-9537.
    • (1980) J Biol Chem , vol.255 , pp. 9534-9537
    • Hunziker, W.1    Walters, M.R.2    Norman, A.W.3
  • 62
    • 0021258347 scopus 로고
    • Development of a radioligand immunoassay for 1,25-dihydroxycholecalciferol receptors utilizing monoclonal antibody
    • Dokoh S, Haussler MR, Pike JW. Development of a radioligand immunoassay for 1,25-dihydroxycholecalciferol receptors utilizing monoclonal antibody. Biochem J. 1984;221:129-136.
    • (1984) Biochem J , vol.221 , pp. 129-136
    • Dokoh, S.1    Haussler, M.R.2    Pike, J.W.3
  • 63
    • 4644338642 scopus 로고    scopus 로고
    • The co-repressor hairless has a role in epithelial cell differentiation in the skin
    • Zarach JM, Beaudoin GM 3rd, Coulombe PA, Thompson CC. The co-repressor hairless has a role in epithelial cell differentiation in the skin. Development. 2004;131:4189-4200.
    • (2004) Development , vol.131 , pp. 4189-4200
    • Zarach, J.M.1    Beaudoin 3rd, G.M.2    Coulombe, P.A.3    Thompson, C.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.