메뉴 건너뛰기




Volumn , Issue , 2003, Pages 583-602

Rickets Due to Hereditary Abnormalities of Vitamin D Synthesis or Action

Author keywords

[No Author keywords available]

Indexed keywords


EID: 34547803312     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012286551-0/50026-9     Document Type: Chapter
Times cited : (10)

References (125)
  • 1
    • 0002469477 scopus 로고    scopus 로고
    • Vitamin D: Metabolism and action
    • Academic Press, Amsterdam, R. Marcus (Ed.)
    • Feldman D., Malloy P.J., Gross C. Vitamin D: Metabolism and action. Osteoporosis 1996, 205-235. Academic Press, Amsterdam. R. Marcus (Ed.).
    • (1996) Osteoporosis , pp. 205-235
    • Feldman, D.1    Malloy, P.J.2    Gross, C.3
  • 6
    • 0032488666 scopus 로고    scopus 로고
    • Cytochrome b5 augments the 17,20-lyase activity of human P450cl7 without direct electron transfer
    • Auchus R.J., Lee T.C., Miller W.L. Cytochrome b5 augments the 17,20-lyase activity of human P450cl7 without direct electron transfer. J.Biol. Chem. 1998, 273:3158-3165.
    • (1998) J.Biol. Chem. , vol.273 , pp. 3158-3165
    • Auchus, R.J.1    Lee, T.C.2    Miller, W.L.3
  • 7
    • 0025209795 scopus 로고
    • 3 25-hydroxylase from rat liver mitochondria
    • 3 25-hydroxylase from rat liver mitochondria. FEBS Lett. 1990, 161:135-138.
    • (1990) FEBS Lett. , vol.161 , pp. 135-138
    • Usui, E.1    Noshiro, M.2    Okuda, K.3
  • 9
    • 0025868097 scopus 로고
    • Characterization of human sterol 27-hydroxylase
    • Cali J.J., Russell D.W. Characterization of human sterol 27-hydroxylase. J.Biol Chem. 1991, 266:7774-7778.
    • (1991) J.Biol Chem. , vol.266 , pp. 7774-7778
    • Cali, J.J.1    Russell, D.W.2
  • 10
    • 0031755168 scopus 로고    scopus 로고
    • Current understanding of the molecular actions of vitamin D
    • Jones G., Strugnell S.A., DeLuca H.F. Current understanding of the molecular actions of vitamin D. Physiol. Rev. 1998, 78:1193-1231.
    • (1998) Physiol. Rev. , vol.78 , pp. 1193-1231
    • Jones, G.1    Strugnell, S.A.2    DeLuca, H.F.3
  • 13
    • 0028982622 scopus 로고
    • Cloning of the human 1 alpha, 25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements
    • Chen K.S., DeLuca H.F. Cloning of the human 1 alpha, 25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. Biochim. Biophys. Acta 1995, 1263:1-9.
    • (1995) Biochim. Biophys. Acta , vol.1263 , pp. 1-9
    • Chen, K.S.1    DeLuca, H.F.2
  • 14
    • 0030782757 scopus 로고    scopus 로고
    • Cloning of human 25-hydroxyvitamin D-1α-hydroxylase and mutations causing vitamin D-dependent rickets type 1
    • Fu G.K., Lin D., Zhang M.Y.H., Bikle D.D., Miller W.L., Portale A.A. Cloning of human 25-hydroxyvitamin D-1α-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol. Endocrinol. 1997, 11:1961-1970.
    • (1997) Mol. Endocrinol. , vol.11 , pp. 1961-1970
    • Fu, G.K.1    Lin, D.2    Zhang, M.Y.H.3    Bikle, D.D.4    Miller, W.L.5    Portale, A.A.6
  • 16
    • 0001196827 scopus 로고    scopus 로고
    • The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus
    • St.-Arnaud R., Messerlian S., Moir J.M., Omdahl J.L., Glorieux F.H. The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J.Bone Miner. Res. 1997, 12:1552-1559.
    • (1997) J.Bone Miner. Res. , vol.12 , pp. 1552-1559
    • St -Arnaud, R.1    Messerlian, S.2    Moir, J.M.3    Omdahl, J.L.4    Glorieux, F.H.5
  • 19
    • 0031410426 scopus 로고    scopus 로고
    • Complete structure of the human gene for the vitamin D lα-hydroxylase, P450clα
    • Fu G.K., Portale A.A., Miller W.L. Complete structure of the human gene for the vitamin D lα-hydroxylase, P450clα. DNA Cell Biol. 1997, 16:1499-1507.
    • (1997) DNA Cell Biol. , vol.16 , pp. 1499-1507
    • Fu, G.K.1    Portale, A.A.2    Miller, W.L.3
  • 23
    • 0035166386 scopus 로고    scopus 로고
    • 25-Hydroxyvitamin D lalpha-hydroxylase: Structure of the mouse gene, chromosomal assignment, and developmental expression
    • Panda D.K., Al Kawas S., Seldin M.F., Hendy G.N., Goltzman D. 25-Hydroxyvitamin D lalpha-hydroxylase: Structure of the mouse gene, chromosomal assignment, and developmental expression. J.Bone Miner. Res. 2001, 16:46-56.
    • (2001) J.Bone Miner. Res. , vol.16 , pp. 46-56
    • Panda, D.K.1    Al Kawas, S.2    Seldin, M.F.3    Hendy, G.N.4    Goltzman, D.5
  • 24
    • 0000104676 scopus 로고
    • Eine besondere form des primare vitamin-D-resistenten rachitis mit hypocalcamie und auto-somal-dominanten erbgang: Die hereditare pseudomangelrachitis
    • Prader A., Illig R., Heierli E. Eine besondere form des primare vitamin-D-resistenten rachitis mit hypocalcamie und auto-somal-dominanten erbgang: Die hereditare pseudomangelrachitis. Helv. Paediatr. Acta 1961, 16:452-468.
    • (1961) Helv. Paediatr. Acta , vol.16 , pp. 452-468
    • Prader, A.1    Illig, R.2    Heierli, E.3
  • 26
    • 0014754697 scopus 로고
    • Vitamin D dependency
    • Scriver C.R. Vitamin D dependency. Pediatrics 1970, 45:361-363.
    • (1970) Pediatrics , vol.45 , pp. 361-363
    • Scriver, C.R.1
  • 27
    • 0014153041 scopus 로고
    • Pseudo vitamin D deficiency rickets. Report of four new cases
    • Stoop J.W., Schraagen M.J., Tiddens H.A. Pseudo vitamin D deficiency rickets. Report of four new cases. Acta Paediatr. Scand. 1967, 56:607-616.
    • (1967) Acta Paediatr. Scand. , vol.56 , pp. 607-616
    • Stoop, J.W.1    Schraagen, M.J.2    Tiddens, H.A.3
  • 28
    • 0014351072 scopus 로고
    • Hereditary pseudo-vitamin D deficiency rickets ("hereditare pseudomangelrachitis")
    • Dent C.E., Friedman M., Watson L. Hereditary pseudo-vitamin D deficiency rickets ("hereditare pseudomangelrachitis"). J.Bone Joint Surg. Br. 1968, 50:708-719.
    • (1968) J.Bone Joint Surg. Br. , vol.50 , pp. 708-719
    • Dent, C.E.1    Friedman, M.2    Watson, L.3
  • 29
    • 0014525378 scopus 로고
    • Laboratory findings in a child with pseudo-vitamin D deficiency rickets
    • Matsuda I., Sugai M., Ohsawa T. Laboratory findings in a child with pseudo-vitamin D deficiency rickets. Helv. Paediatr. Acta 1969, 24:329-336.
    • (1969) Helv. Paediatr. Acta , vol.24 , pp. 329-336
    • Matsuda, I.1    Sugai, M.2    Ohsawa, T.3
  • 30
    • 0014588761 scopus 로고
    • Hereditary pseudo-vitamin Ddeficiency rickets
    • Fanconi A., Prader A. Hereditary pseudo-vitamin Ddeficiency rickets. Helv. Paediatr. Acta 1969, 24:423-447.
    • (1969) Helv. Paediatr. Acta , vol.24 , pp. 423-447
    • Fanconi, A.1    Prader, A.2
  • 31
    • 0014887807 scopus 로고
    • Vitamin D dependency: An inherited postnatal syndrome with secondary hyperparathyroidism
    • Arnaud C., Maijer R., Reade T., Scriver C.R., Whelan D.T. Vitamin D dependency: An inherited postnatal syndrome with secondary hyperparathyroidism. Pediatrics 1970, 46:871-880.
    • (1970) Pediatrics , vol.46 , pp. 871-880
    • Arnaud, C.1    Maijer, R.2    Reade, T.3    Scriver, C.R.4    Whelan, D.T.5
  • 34
    • 0001868060 scopus 로고
    • Hereditary pseudo-deficiency rickets or vitaminD-dependency type I
    • Raven Press, San Diego, F.H. Glorieux (Ed.)
    • Balsan S. Hereditary pseudo-deficiency rickets or vitaminD-dependency type I. Rickets 1991, 155-165. Raven Press, San Diego. F.H. Glorieux (Ed.).
    • (1991) Rickets , pp. 155-165
    • Balsan, S.1
  • 35
    • 0014150130 scopus 로고
    • Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency
    • Fraser D., Kooh S.W., Scriver C.R. Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. Pediatr. Res. 1967, 1:425-435.
    • (1967) Pediatr. Res. , vol.1 , pp. 425-435
    • Fraser, D.1    Kooh, S.W.2    Scriver, C.R.3
  • 36
    • 0015929252 scopus 로고
    • Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to lα
    • Fraser D., Kooh S.W., Kind H.P., Holick M.F., Tanaka Y., DeLuca H.F. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to lα,. N.Engl. J. Med. 1973, 289:817-822.
    • (1973) N.Engl. J. Med. , vol.289 , pp. 817-822
    • Fraser, D.1    Kooh, S.W.2    Kind, H.P.3    Holick, M.F.4    Tanaka, Y.5    DeLuca, H.F.6
  • 37
    • 0018133886 scopus 로고
    • Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease
    • Scriver C.R., Reade T.M., DeLuca H.F., Hamstra A.J. Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N.Engl. J. Med. 1978, 299:976-979.
    • (1978) N.Engl. J. Med. , vol.299 , pp. 976-979
    • Scriver, C.R.1    Reade, T.M.2    DeLuca, H.F.3    Hamstra, A.J.4
  • 39
    • 0020658147 scopus 로고
    • Effect of parathyroid hormone on cAMP and 1,25-dihydroxyvitamin D formation and renal handling of phosphate in vitamin D-dependent rickets
    • Aarskog D., Aksnes L., Markestad T. Effect of parathyroid hormone on cAMP and 1,25-dihydroxyvitamin D formation and renal handling of phosphate in vitamin D-dependent rickets. Pediatrics 1983, 71:59-63.
    • (1983) Pediatrics , vol.71 , pp. 59-63
    • Aarskog, D.1    Aksnes, L.2    Markestad, T.3
  • 40
    • 0026605796 scopus 로고
    • Normal 24-hydroxylation of vitamin D metabolites in patients with vitamin D-dependency rickets type I. Structural implications for the vitamin D hydroxylases
    • Mandla S., Jones G., Tenenhouse H.S. Normal 24-hydroxylation of vitamin D metabolites in patients with vitamin D-dependency rickets type I. Structural implications for the vitamin D hydroxylases. J.Clin. Endocrinol. Metab. 1992, 74:814-820.
    • (1992) J.Clin. Endocrinol. Metab. , vol.74 , pp. 814-820
    • Mandla, S.1    Jones, G.2    Tenenhouse, H.S.3
  • 41
    • 0026321320 scopus 로고
    • Population genetics of vitamin D-dependent rickets in northeastern Quebec
    • De Braekeleer M., Larochelle J. Population genetics of vitamin D-dependent rickets in northeastern Quebec. Ann. Hum. Genet. 1991, 55:283-290.
    • (1991) Ann. Hum. Genet. , vol.55 , pp. 283-290
    • De Braekeleer, M.1    Larochelle, J.2
  • 42
    • 0025369001 scopus 로고
    • Mappingautosomal recessive vitamin D dependency type I to chromosomal 12ql4 by linkage analysis
    • Labuda M., Morgan K., Glorieux F.H. Mappingautosomal recessive vitamin D dependency type I to chromosomal 12ql4 by linkage analysis. Am. J. Hum. Genet. 1990, 47:28-36.
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 28-36
    • Labuda, M.1    Morgan, K.2    Glorieux, F.H.3
  • 46
    • 0036077507 scopus 로고    scopus 로고
    • Novel gene mutations in patients with lα-hydroxylase deficiency that confer partial enzyme activity in vitro
    • Wang X., Zhang M.Y.H., Miller W.L., Portale A.A. Novel gene mutations in patients with lα-hydroxylase deficiency that confer partial enzyme activity in vitro. J.Clin. Endocrinol. Metab. 2002, 87:2424-2430.
    • (2002) J.Clin. Endocrinol. Metab. , vol.87 , pp. 2424-2430
    • Wang, X.1    Zhang, M.Y.H.2    Miller, W.L.3    Portale, A.A.4
  • 47
    • 0023645035 scopus 로고
    • High-resolution crystal structure of cytochrome P450cam
    • Poulos T.L., Finzel B.C., Howard A.J. High-resolution crystal structure of cytochrome P450cam. J.Mol. Biol. 1987, 195:687-700.
    • (1987) J.Mol. Biol. , vol.195 , pp. 687-700
    • Poulos, T.L.1    Finzel, B.C.2    Howard, A.J.3
  • 48
    • 0028267490 scopus 로고
    • Crystal structure and refinement of cytochrome P450terp at 2.3 A resolution
    • Hasemann C.A., Ravichandran K.G., Peterson J.A., Deisenhofer J. Crystal structure and refinement of cytochrome P450terp at 2.3 A resolution. J.Mol. Biol. 1994, 236:1169-1185.
    • (1994) J.Mol. Biol. , vol.236 , pp. 1169-1185
    • Hasemann, C.A.1    Ravichandran, K.G.2    Peterson, J.A.3    Deisenhofer, J.4
  • 49
    • 0029586252 scopus 로고
    • Structure of cytochrome P450eryF involved in erythromycin biosynthesis
    • Cupp-Vickery J.R., Poulos T.L. Structure of cytochrome P450eryF involved in erythromycin biosynthesis. Nat. Struct. Biol. 1995, 2:144-153.
    • (1995) Nat. Struct. Biol. , vol.2 , pp. 144-153
    • Cupp-Vickery, J.R.1    Poulos, T.L.2
  • 50
    • 0029643786 scopus 로고
    • Structure and function of cytochromes P450: A comparative analysis of three crystal structures
    • Hasemann C.A., Kurumbail R.G., Boddupalli S.S., Peterson J.A., Deisenhofer J. Structure and function of cytochromes P450: A comparative analysis of three crystal structures. Structure 1995, 3:41-62.
    • (1995) Structure , vol.3 , pp. 41-62
    • Hasemann, C.A.1    Kurumbail, R.G.2    Boddupalli, S.S.3    Peterson, J.A.4    Deisenhofer, J.5
  • 51
    • 0028318144 scopus 로고
    • Point mutation of Arg440 to His in cytochrome P450cl7 causes severe 17α-hydroxylase deficiency
    • Fardella C.E., Hum D.W., Homoki J., Miller W.L. Point mutation of Arg440 to His in cytochrome P450cl7 causes severe 17α-hydroxylase deficiency. J.Clin. Endocrinol. Metab. 1994, 79:160-164.
    • (1994) J.Clin. Endocrinol. Metab. , vol.79 , pp. 160-164
    • Fardella, C.E.1    Hum, D.W.2    Homoki, J.3    Miller, W.L.4
  • 52
    • 0028298216 scopus 로고
    • A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding arom
    • Conte F.A., Grumbach M.M., Ito Y., Fisher C.R., Simpson E.R. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding arom. J.Clin. Endocrinol. Metab. 1994, 78:1287-1292.
    • (1994) J.Clin. Endocrinol. Metab. , vol.78 , pp. 1287-1292
    • Conte, F.A.1    Grumbach, M.M.2    Ito, Y.3    Fisher, C.R.4    Simpson, E.R.5
  • 53
    • 0033346398 scopus 로고    scopus 로고
    • Molecular modeling of human P450cl7 (17α-hydroxylase/17,20-lyase). Insights into reaction mechanisms and effects of mutations
    • Auchus R.J., Miller W.L. Molecular modeling of human P450cl7 (17α-hydroxylase/17,20-lyase). Insights into reaction mechanisms and effects of mutations. Mol. Endocrinol. 1999, 13:1169-1182.
    • (1999) Mol. Endocrinol. , vol.13 , pp. 1169-1182
    • Auchus, R.J.1    Miller, W.L.2
  • 54
    • 0035663972 scopus 로고    scopus 로고
    • Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xan
    • Sawada N., Sakaki T., Kitanaka S., Kato S., Inouye K. Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xan. Eur. J. Biochem. 2001, 268:6607-6615.
    • (2001) Eur. J. Biochem. , vol.268 , pp. 6607-6615
    • Sawada, N.1    Sakaki, T.2    Kitanaka, S.3    Kato, S.4    Inouye, K.5
  • 58
    • 0032780531 scopus 로고    scopus 로고
    • The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets
    • Malloy P.J., Pike J.W., Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocr. Rev. 1999, 20:156-188.
    • (1999) Endocr. Rev. , vol.20 , pp. 156-188
    • Malloy, P.J.1    Pike, J.W.2    Feldman, D.3
  • 63
    • 0022501061 scopus 로고
    • Analysis of therelation between alopecia and resistance to 1,25-dihydroxyvitamin D
    • Marx S.J., Bliziotes M.M., Nanes M. Analysis of therelation between alopecia and resistance to 1,25-dihydroxyvitamin D. Clin. Endocrinol (Oxford) 1986, 25:373-381.
    • (1986) Clin. Endocrinol (Oxford) , vol.25 , pp. 373-381
    • Marx, S.J.1    Bliziotes, M.M.2    Nanes, M.3
  • 65
    • 0027416673 scopus 로고
    • A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rick
    • Yagi H., Ozono K., Miyake H., Nagashima K., Kuroume T., Pike J.W. A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rick. J.Clin. Endocrinol. Metab. 1993, 76:509-512.
    • (1993) J.Clin. Endocrinol. Metab. , vol.76 , pp. 509-512
    • Yagi, H.1    Ozono, K.2    Miyake, H.3    Nagashima, K.4    Kuroume, T.5    Pike, J.W.6
  • 66
    • 0021915040 scopus 로고
    • Vitamin D resistance and alopecia: A kindred with normal 1,25-dihydroxyvitamin D binding, but decreased receptor affinity for deoxyribonucleic acid
    • Hirst M.A., Hochman H.I., Feldman D. Vitamin D resistance and alopecia: A kindred with normal 1,25-dihydroxyvitamin D binding, but decreased receptor affinity for deoxyribonucleic acid. J.Clin. Endocrinol. Metab. 1985, 60:490-495.
    • (1985) J.Clin. Endocrinol. Metab. , vol.60 , pp. 490-495
    • Hirst, M.A.1    Hochman, H.I.2    Feldman, D.3
  • 70
    • 0030771215 scopus 로고    scopus 로고
    • Evidence for ligand-dependent intramolecular folding of the AF-2 domain in vitamin D receptor-activated transcription and coactivator interaction
    • Masuyama H., Brownfield C.M., St.-Arnaud R., MacDonald P.N. Evidence for ligand-dependent intramolecular folding of the AF-2 domain in vitamin D receptor-activated transcription and coactivator interaction. Mol. Endocrinol. 1997, 11:1507-1517.
    • (1997) Mol. Endocrinol. , vol.11 , pp. 1507-1517
    • Masuyama, H.1    Brownfield, C.M.2    St -Arnaud, R.3    MacDonald, P.N.4
  • 72
    • 0028010865 scopus 로고
    • The C-terminal region of the vitamin D receptor is essential to form a complex with a receptor auxiliary factor required for high affinity binding to the vita
    • Nakajima S., Hsieh J.C., MacDonald P.N., Galligan M.A., Haussler C.A., Whitfield G.K., Haussler M.R. The C-terminal region of the vitamin D receptor is essential to form a complex with a receptor auxiliary factor required for high affinity binding to the vita. Mol. Endocrinol. 1994, 8:159-172.
    • (1994) Mol. Endocrinol. , vol.8 , pp. 159-172
    • Nakajima, S.1    Hsieh, J.C.2    MacDonald, P.N.3    Galligan, M.A.4    Haussler, C.A.5    Whitfield, G.K.6    Haussler, M.R.7
  • 74
    • 0019798839 scopus 로고
    • A cellular defect in hereditary vitamin-D dependent rickets type II:Defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts
    • Eil C., Liberman U.A., Rosen J.F., Marx S.J. A cellular defect in hereditary vitamin-D dependent rickets type II:Defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts. N.Engl. J. Med. 1981, 304:1588-1591.
    • (1981) N.Engl. J. Med. , vol.304 , pp. 1588-1591
    • Eil, C.1    Liberman, U.A.2    Rosen, J.F.3    Marx, S.J.4
  • 78
    • 0020656541 scopus 로고
    • Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts
    • Liberman U.A., Eil C., Marx S.J. Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts. J.Clin. Invest. 1983, 71:192-200.
    • (1983) J.Clin. Invest. , vol.71 , pp. 192-200
    • Liberman, U.A.1    Eil, C.2    Marx, S.J.3
  • 79
    • 0021225252 scopus 로고
    • 1,25-Dihydroxytiamin D resistance,rickets, and alopecia: Analysis of receptors and bioresponse in cultured fibroblasts from patients and parents
    • Chen T.L., Hirst M.A., Cone C.M., Hochberg T., Tietze H.U., Feldman D. 1,25-Dihydroxytiamin D resistance,rickets, and alopecia: Analysis of receptors and bioresponse in cultured fibroblasts from patients and parents. J.Clin. Endocrinol. Metab. 1984, 59:383-388.
    • (1984) J.Clin. Endocrinol. Metab. , vol.59 , pp. 383-388
    • Chen, T.L.1    Hirst, M.A.2    Cone, C.M.3    Hochberg, T.4    Tietze, H.U.5    Feldman, D.6
  • 80
    • 0021087992 scopus 로고
    • Hereditary resistance to 1,25-dihydroxyvitamin D: Defective function of receptors for 1,25-dihydroxyvitamin D in cells cultured from bone
    • Liberman U.A., Eil C., Hoist P., Rosen J.F., Marx S.J. Hereditary resistance to 1,25-dihydroxyvitamin D: Defective function of receptors for 1,25-dihydroxyvitamin D in cells cultured from bone. J.Clin. Endocrinol. Metab. 1983, 57:958-962.
    • (1983) J.Clin. Endocrinol. Metab. , vol.57 , pp. 958-962
    • Liberman, U.A.1    Eil, C.2    Hoist, P.3    Rosen, J.F.4    Marx, S.J.5
  • 81
    • 0020521368 scopus 로고
    • Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positiv
    • Griffin J.E., Zerwekh J.E. Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positiv. J.Clin. Invest. 1983, 72:1190-1199.
    • (1983) J.Clin. Invest. , vol.72 , pp. 1190-1199
    • Griffin, J.E.1    Zerwekh, J.E.2
  • 82
    • 0022658476 scopus 로고
    • Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: Chromatography of hormone-receptor complexes on deoxyribonucleic acid-cellulose shows two
    • Liberman U.A., Eil C., Marx S.J. Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: Chromatography of hormone-receptor complexes on deoxyribonucleic acid-cellulose shows two. J.Clin. Endocrinol. Metab. 1986, 62:122-126.
    • (1986) J.Clin. Endocrinol. Metab. , vol.62 , pp. 122-126
    • Liberman, U.A.1    Eil, C.2    Marx, S.J.3
  • 83
    • 0021258347 scopus 로고
    • Development of a radioligand immunoassay for 1,25-dihydroxycholecalciferol receptors utilizing monoclonal antibody
    • Dokoh S., Haussler M.R., Pike J.W. 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
  • 86
    • 0021328254 scopus 로고
    • 3. Interaction and effects of binding on receptor function
    • 3. Interaction and effects of binding on receptor function. J.Biol. Chem. 1984, 259:1167-1173.
    • (1984) J.Biol. Chem. , vol.259 , pp. 1167-1173
    • Pike, J.W.1
  • 88
    • 0024537050 scopus 로고
    • Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II
    • Malloy P.J., Hochberg Z., Pike J.W., Feldman D. Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. J.Clin. Endocrinol. Metab. 1989, 68:263-269.
    • (1989) J.Clin. Endocrinol. Metab. , vol.68 , pp. 263-269
    • Malloy, P.J.1    Hochberg, Z.2    Pike, J.W.3    Feldman, D.4
  • 101
    • 0031038088 scopus 로고    scopus 로고
    • Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hypore
    • Malloy P.J., Eccleshall T.R., Gross C., Van Maldergem L., Bouillon R., Feldman D. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hypore. J.Clin. Invest. 1997, 99:297-304.
    • (1997) J.Clin. Invest. , vol.99 , pp. 297-304
    • Malloy, P.J.1    Eccleshall, T.R.2    Gross, C.3    Van Maldergem, L.4    Bouillon, R.5    Feldman, D.6
  • 103
    • 0030883461 scopus 로고    scopus 로고
    • Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets
    • Cockerill F.J., Hawa N.S., Yousaf N., Hewison M., O'Riordan J.L., Farrow S.M. Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets. J.Clin. Endocrinol. Metab. 1997, 82:3156-3160.
    • (1997) J.Clin. Endocrinol. Metab. , vol.82 , pp. 3156-3160
    • Cockerill, F.J.1    Hawa, N.S.2    Yousaf, N.3    Hewison, M.4    O'Riordan, J.L.5    Farrow, S.M.6
  • 104
    • 0034975221 scopus 로고    scopus 로고
    • A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets
    • Malloy P.J., Zhu W., Zhao X.Y., Pehling G.B., Feldman D. A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets. Mol. Genet. Metab. 2001, 73:138-148.
    • (2001) Mol. Genet. Metab. , vol.73 , pp. 138-148
    • Malloy, P.J.1    Zhu, W.2    Zhao, X.Y.3    Pehling, G.B.4    Feldman, D.5
  • 105
    • 0025780755 scopus 로고
    • Crystallographic analysis of the interaction of the glucocorticoid receptor with DNA
    • Luisi B.F., Xu W.X., Otwinowski Z., Freedman L.P., Yamamoto K.R., Sigler P.B. Crystallographic analysis of the interaction of the glucocorticoid receptor with DNA. Nature 1991, 352:497-505.
    • (1991) Nature , vol.352 , pp. 497-505
    • Luisi, B.F.1    Xu, W.X.2    Otwinowski, Z.3    Freedman, L.P.4    Yamamoto, K.R.5    Sigler, P.B.6
  • 106
    • 0029044997 scopus 로고
    • Structural determinants of nuclear receptor assembly on DNA direct repeats
    • Rastinejad F., Perlmann T., Evans R.M., Sigler P.B. Structural determinants of nuclear receptor assembly on DNA direct repeats. Nature 1995, 375:203-211.
    • (1995) Nature , vol.375 , pp. 203-211
    • Rastinejad, F.1    Perlmann, T.2    Evans, R.M.3    Sigler, P.B.4
  • 107
    • 0028104903 scopus 로고
    • Two mutations causing vitamin D resistant rickets: Modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures
    • Rut A.R., Hewison M., Kristjansson K., Luisi B., Hughes M.R., O'Riordan J.L. Two mutations causing vitamin D resistant rickets: Modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures. Clin. Endocrinol. (Oxford) 1994, 41:581-590.
    • (1994) Clin. Endocrinol. (Oxford) , vol.41 , pp. 581-590
    • Rut, A.R.1    Hewison, M.2    Kristjansson, K.3    Luisi, B.4    Hughes, M.R.5    O'Riordan, J.L.6
  • 109
    • 0026072607 scopus 로고
    • 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 po
    • Saijo T., Ito M., Takeda E., Huq A.H., Naito E., Yokota I., Sone T., Pike J.W., Kuroda Y. 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 po. Am. J. Hum. Genet. 1991, 49:668-673.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 668-673
    • Saijo, T.1    Ito, M.2    Takeda, E.3    Huq, A.H.4    Naito, E.5    Yokota, I.6    Sone, T.7    Pike, J.W.8    Kuroda, Y.9
  • 110
    • 84995839573 scopus 로고
    • Hereditary lα,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain
    • Malloy P.J., Weisman Y., Feldman D. Hereditary lα,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain. J.Clin. Endocrinol. Metab. 1994, 78:313-316.
    • (1994) J.Clin. Endocrinol. Metab. , vol.78 , pp. 313-316
    • Malloy, P.J.1    Weisman, Y.2    Feldman, D.3
  • 112
    • 0029899163 scopus 로고    scopus 로고
    • A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets
    • Lin N.U., Malloy P.J., Sakati N., al-Ashwal A., Feldman D. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. J.Clin. Endocrinol. Metab. 1996, 81:2564-2569.
    • (1996) J.Clin. Endocrinol. Metab. , vol.81 , pp. 2564-2569
    • Lin, N.U.1    Malloy, P.J.2    Sakati, N.3    al-Ashwal, A.4    Feldman, D.5
  • 114
    • 0031916075 scopus 로고    scopus 로고
    • Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor
    • Zhu W., Malloy P.J., Delvin E., Chabot G., Feldman D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor. J.Bone Miner. Res. 1998, 13:259-264.
    • (1998) J.Bone Miner. Res. , vol.13 , pp. 259-264
    • Zhu, W.1    Malloy, P.J.2    Delvin, E.3    Chabot, G.4    Feldman, D.5
  • 115
    • 0036844298 scopus 로고    scopus 로고
    • A novel mutation in helix 12 of the VDR impairs coactivator interaction and causes 1,25-dihydroxyvitamin D-resistant rickets without alopecia
    • Malloy P.J., Xu R., Peng L., Clark P.A., Feldman D. A novel mutation in helix 12 of the VDR impairs coactivator interaction and causes 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Mol. Endocrinol. 2002, 16:2538-2546.
    • (2002) Mol. Endocrinol. , vol.16 , pp. 2538-2546
    • Malloy, P.J.1    Xu, R.2    Peng, L.3    Clark, P.A.4    Feldman, D.5
  • 116
    • 0036920204 scopus 로고    scopus 로고
    • A novel nonsense mutation in the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets
    • Malloy P.J., Zhu W., Bouillon R., Feldman D. A novel nonsense mutation in the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. Mol. Genet. Metab. 2002, 11:314-318.
    • (2002) Mol. Genet. Metab. , vol.11 , pp. 314-318
    • Malloy, P.J.1    Zhu, W.2    Bouillon, R.3    Feldman, D.4
  • 117
    • 0033963897 scopus 로고    scopus 로고
    • The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand
    • Rochel N., Wurtz J.M., Mitschler A., Klaholz B., Moras D. The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand. Mol. Cell 2000, 5:173-179.
    • (2000) Mol. Cell , vol.5 , pp. 173-179
    • Rochel, N.1    Wurtz, J.M.2    Mitschler, A.3    Klaholz, B.4    Moras, D.5
  • 119
    • 0018291476 scopus 로고
    • A unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D
    • Zerwekh J.E., Glass K., Jowsey J., Pak C.Y.C. A unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D. J.Clin. Endocrinol. Metab. 1979, 49:171-175.
    • (1979) J.Clin. Endocrinol. Metab. , vol.49 , pp. 171-175
    • Zerwekh, J.E.1    Glass, K.2    Jowsey, J.3    Pak, C.Y.C.4
  • 121
    • 0022462199 scopus 로고
    • Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D
    • Balsan S., Garabedian M., Larchet M., Groski A.M., Cournot G., Tau C., Bourdeau A., Silve C., Ricour C. Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D. J.Clin. Invest. 1986, 77:1661-1667.
    • (1986) J.Clin. Invest. , vol.77 , pp. 1661-1667
    • Balsan, S.1    Garabedian, M.2    Larchet, M.3    Groski, A.M.4    Cournot, G.5    Tau, C.6    Bourdeau, A.7    Silve, C.8    Ricour, C.9
  • 122
    • 0026451850 scopus 로고
    • Calcium therapy for calcitriol-resistant rickets
    • Hochberg Z., Tiosano D., Even L. Calcium therapy for calcitriol-resistant rickets. J.Pediatr. 1992, 121:803-808.
    • (1992) J.Pediatr. , vol.121 , pp. 803-808
    • Hochberg, Z.1    Tiosano, D.2    Even, L.3
  • 125
    • 0028795463 scopus 로고
    • Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II
    • Kruse K., Feldmann E. Healing of rickets during vitamin D therapy despite defective vitamin D receptors in two siblings with vitamin D-dependent rickets type II. J.Pediatr. 1995, 126:145-148.
    • (1995) J.Pediatr. , vol.126 , pp. 145-148
    • Kruse, K.1    Feldmann, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.