메뉴 건너뛰기




Volumn 22, Issue SUPPL. 2, 2007, Pages

Vitamin D-resistant diseases

Author keywords

1,25(OH)2D (calcitriol); Inborn errors in the vitamin D receptor; Rickets hereditary; Vitamin D receptor; Vitamin D resistance

Indexed keywords

CALCITRIOL; CALCIUM; DRUG METABOLITE; VITAMIN D; VITAMIN D RECEPTOR;

EID: 39749113799     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.07s210     Document Type: Conference Paper
Times cited : (27)

References (11)
  • 3
    • 0020656541 scopus 로고
    • Resistance to 1,25-dihydroxyvitamin D: Association with heterogenous defects in cultured skin fibroblasts
    • Liberman UA, Eil C, Marx SJ 1983 Resistance to 1,25-dihydroxyvitamin D: association with heterogenous defects in cultured skin fibroblasts. J Clin Invest 71:192-200.
    • (1983) J Clin Invest , vol.71 , pp. 192-200
    • Liberman, U.A.1    Eil, C.2    Marx, S.J.3
  • 5
    • 0036920204 scopus 로고    scopus 로고
    • A novel non-sense 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 2002 A novel non-sense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. Mol Genet Metab 77:314-318.
    • (2002) Mol Genet Metab , vol.77 , pp. 314-318
    • Malloy, P.J.1    Zhu, W.2    Bouillon, R.3    Feldman, D.4
  • 6
    • 10544241193 scopus 로고    scopus 로고
    • Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: Point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner
    • Whitfield GK, Selznick SH, Haussler CA, Hsieh JC, Galligan MA, Jurutka PW, Thompson PD, Lee SM, Zerwekh JE, Haussler MR 1996 Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: Point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. Mol Endocrinol 10:1617-1631.
    • (1996) Mol Endocrinol , vol.10 , pp. 1617-1631
    • Whitfield, G.K.1    Selznick, S.H.2    Haussler, C.A.3    Hsieh, J.C.4    Galligan, M.A.5    Jurutka, P.W.6    Thompson, P.D.7    Lee, S.M.8    Zerwekh, J.E.9    Haussler, M.R.10
  • 7
    • 39749128245 scopus 로고    scopus 로고
    • 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 I, Clark PA, Feldman D 2002 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. Mol Endocrinol 10:1617-1631.
    • (2002) Mol Endocrinol , vol.10 , pp. 1617-1631
    • Malloy, P.J.1    Xu, R.2    Peng, I.3    Clark, P.A.4    Feldman, D.5
  • 8
    • 0032780531 scopus 로고    scopus 로고
    • The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistance rickets
    • Malloy PJ, Pike GW, Feldman D 1999 The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistance rickets. Endocr Rev 20:156-188.
    • (1999) Endocr Rev , vol.20 , pp. 156-188
    • Malloy, P.J.1    Pike, G.W.2    Feldman, D.3
  • 9
    • 0005991191 scopus 로고    scopus 로고
    • Vitamin D and other calciferols In: Scriver CR
    • Beaudet AL, Sly WS, Valle D eds, The McGraw-Hill Companies, NY, USA, pp
    • Liberman UA, Marx SJ 2001 Vitamin D and other calciferols In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) Metabolic and Molecular Bases of Inherited Diseases. The McGraw-Hill Companies, NY, USA, pp. 4223-4240.
    • (2001) Metabolic and Molecular Bases of Inherited Diseases , pp. 4223-4240
    • Liberman, U.A.1    Marx, S.J.2
  • 10
    • 33646549957 scopus 로고    scopus 로고
    • Hereditary 1,25-dihydroxyvitamin D resistant rickets
    • Feldman D, Pike GW, Glorieux FH eds, Elsevier, Academic Press, Burlington, VT, USA, pp
    • Malloy PJ, Pike GW, Feldman D 2005 Hereditary 1,25-dihydroxyvitamin D resistant rickets. In: Feldman D, Pike GW, Glorieux FH (eds.) Vitamin D. Elsevier, Academic Press, Burlington, VT, USA, pp. 1207-1239.
    • (2005) Vitamin D , pp. 1207-1239
    • Malloy, P.J.1    Pike, G.W.2    Feldman, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.