메뉴 건너뛰기




Volumn 20, Issue 5, 2005, Pages 773-782

Functional analysis of the single nucleotide polymorphism (787T>C) in the Tissue-Nonspecific Alkaline Phosphatase gene associated with BMD

Author keywords

BMD; Expression vector; Osteoporosis; Single nucleotide polymorphism; Tissue nonspecific alkaline phosphatase

Indexed keywords

ALKALINE PHOSPHATASE; COMPLEMENTARY DNA;

EID: 17644367807     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/JBMR.041229     Document Type: Article
Times cited : (44)

References (46)
  • 2
    • 0023732992 scopus 로고
    • Sequence and characterization of the human intestinal alkaline phosphatase gene
    • Henthorn PS, Raducha M, Kadesch T, Weiss MJ, Harris H 1988 Sequence and characterization of the human intestinal alkaline phosphatase gene. J Biol Chem 263:12011-12019.
    • (1988) J Biol Chem , vol.263 , pp. 12011-12019
    • Henthorn, P.S.1    Raducha, M.2    Kadesch, T.3    Weiss, M.J.4    Harris, H.5
  • 3
    • 0023780755 scopus 로고
    • Nucleotide sequence of the human placental alkaline phosphatase gene
    • Knoll BJ, Rothbllum KN, Longley M 1988 Nucleotide sequence of the human placental alkaline phosphatase gene. J Biol Chem 263:12020-12027.
    • (1988) J Biol Chem , vol.263 , pp. 12020-12027
    • Knoll, B.J.1    Rothbllum, K.N.2    Longley, M.3
  • 4
    • 0025367098 scopus 로고
    • Characterization of 5′-flanking region of the liver/bone/kidney alkaline phosphatase gene: Two kinds of mRNA from a single gene
    • Matsuura S, Kishi F, Kajii T 1990 Characterization of 5′-flanking region of the liver/bone/kidney alkaline phosphatase gene: Two kinds of mRNA from a single gene. Biochem Biophys Res Commun 168:993-1000.
    • (1990) Biochem Biophys Res Commun , vol.168 , pp. 993-1000
    • Matsuura, S.1    Kishi, F.2    Kajii, T.3
  • 6
    • 0029181748 scopus 로고
    • Identification of bone-type alkaline phosphatase mRNA from human periodontal ligament cells
    • Goseki-Sone M, Oida S, Takeda K, Ogata Y, Iimura T, Maruoka Y, Sasaki S 1995 Identification of bone-type alkaline phosphatase mRNA from human periodontal ligament cells. J Dent Res 74:319-322.
    • (1995) J Dent Res , vol.74 , pp. 319-322
    • Goseki-Sone, M.1    Oida, S.2    Takeda, K.3    Ogata, Y.4    Iimura, T.5    Maruoka, Y.6    Sasaki, S.7
  • 7
    • 0031172625 scopus 로고    scopus 로고
    • Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification
    • Orimo H, Goseki-Sone M, Sato S, Shimada T 1997 Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics 42:364-366.
    • (1997) Genomics , vol.42 , pp. 364-366
    • Orimo, H.1    Goseki-Sone, M.2    Sato, S.3    Shimada, T.4
  • 8
    • 17744417675 scopus 로고    scopus 로고
    • Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
    • Goseki-Sone M, Orimo H, Iimura T, Takagi Y, Watanabe H, Taketa K, Sato S, Mayanagi H, Shimada T, Oida S 1998 Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mutat 1:S263-S267.
    • (1998) Hum Mutat , vol.1
    • Goseki-Sone, M.1    Orimo, H.2    Iimura, T.3    Takagi, Y.4    Watanabe, H.5    Taketa, K.6    Sato, S.7    Mayanagi, H.8    Shimada, T.9    Oida, S.10
  • 10
    • 17544395958 scopus 로고    scopus 로고
    • Intracellular retention and degradation of tissue non-specific alkaline phosphatase phatase with a Gly317>Asp substitution associated with lethal hypophosphatasia
    • Fukushi M, Amizuka N, Hoshi K, Ozawa H, Kumagai H, Omura S, Misumi Y, Ikehara Y, Oda K 1998 Intracellular retention and degradation of tissue non-specific alkaline phosphatase phatase with a Gly317>Asp substitution associated with lethal hypophosphatasia. Biochem Biophys Res Commun 246:613-618.
    • (1998) Biochem Biophys Res Commun , vol.246 , pp. 613-618
    • Fukushi, M.1    Amizuka, N.2    Hoshi, K.3    Ozawa, H.4    Kumagai, H.5    Omura, S.6    Misumi, Y.7    Ikehara, Y.8    Oda, K.9
  • 11
    • 0031971180 scopus 로고    scopus 로고
    • Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia
    • Shibata H, Fukushi M, Igarashi A, Misumi Y, Ikehara Y, Ohashi Y, Oda K 1998 Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162→Thr mutation associated with lethal hypophosphatasia. J Biochem 123:968-977.
    • (1998) J Biochem , vol.123 , pp. 968-977
    • Shibata, H.1    Fukushi, M.2    Igarashi, A.3    Misumi, Y.4    Ikehara, Y.5    Ohashi, Y.6    Oda, K.7
  • 12
    • 0034660661 scopus 로고    scopus 로고
    • Possible interference between tissue-nonspecific alkaline phosphatase with Arg54Cys substitution and acounterpart with an Asp277>Ala substitution found in a compound heterozygote associated with severe hypophosphatasia
    • Fukushi-Irie M, Ito M, Amaya Y, Amizuka N, Ozawa H, Omura S, Ikehara Y, Oda K 2000 Possible interference between tissue-non- specific alkaline phosphatase with Arg54Cys substitution and acounterpart with an Asp277>Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. Biochem J 348:633-642.
    • (2000) Biochem J , vol.348 , pp. 633-642
    • Fukushi-Irie, M.1    Ito, M.2    Amaya, Y.3    Amizuka, N.4    Ozawa, H.5    Omura, S.6    Ikehara, Y.7    Oda, K.8
  • 13
    • 0035685918 scopus 로고    scopus 로고
    • A novel point mutation (C571T) in the tissue-nonspecific alkaline phosphatase gene in a case of adult-type hypophosphatasia
    • Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I 2001 A novel point mutation (C571T) in the tissue-non- specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. Oral Dis 7:331-335.
    • (2001) Oral Dis , vol.7 , pp. 331-335
    • Watanabe, H.1    Hashimoto-Uoshima, M.2    Goseki-Sone, M.3    Orimo, H.4    Ishikawa, I.5
  • 14
    • 0035196396 scopus 로고    scopus 로고
    • Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia
    • Orimo H, Girschick HJ, Goseki-Sone M, Ito M, Oda K, Shimada T 2001 Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. J Bone Miner Res 16:2313-2319.
    • (2001) J Bone Miner Res , vol.16 , pp. 2313-2319
    • Orimo, H.1    Girschick, H.J.2    Goseki-Sone, M.3    Ito, M.4    Oda, K.5    Shimada, T.6
  • 15
    • 0036154262 scopus 로고    scopus 로고
    • Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia
    • Orimo H, Goseki-Sone M, Inoue M, Tsubakio Y, Sakiyama T, Shimada T 2002 Importance of deletion of T at nucleotide 1559 in the tissue- nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia. J Bone Miner Metab 20:28-33.
    • (2002) J Bone Miner Metab , vol.20 , pp. 28-33
    • Orimo, H.1    Goseki-Sone, M.2    Inoue, M.3    Tsubakio, Y.4    Sakiyama, T.5    Shimada, T.6
  • 18
    • 0005131802 scopus 로고
    • Hypophosphatasia
    • Peck WA (ed.) Elsevier Science Publishers, New York, NY, USA
    • Whyte MP 1989 Hypophosphatasia In: Peck WA (ed.) Bone and Mineral Research, vol 6. Elsevier Science Publishers, New York, NY, USA, pp. 319-322.
    • (1989) Bone and Mineral Research , vol.6 , pp. 319-322
    • Whyte, M.P.1
  • 19
    • 0025857671 scopus 로고
    • Recombinant human bone morphogenetic protein-2 stimulates osteoblastic maturation and inhibits myogenic differentiation in vitro
    • Yamaguchi A, Katagiri T, Ikeda T, Wozney JM, Rosen V, Wang EA, Kahn AJ, Suda T, Yoshiki S 1991 Recombinant human bone morphogenetic protein-2 stimulates osteoblastic maturation and inhibits myogenic differentiation in vitro. J Cell Biol 113:681-687.
    • (1991) J Cell Biol , vol.113 , pp. 681-687
    • Yamaguchi, A.1    Katagiri, T.2    Ikeda, T.3    Wozney, J.M.4    Rosen, V.5    Wang, E.A.6    Kahn, A.J.7    Suda, T.8    Yoshiki, S.9
  • 20
    • 0036433172 scopus 로고    scopus 로고
    • Phosphatate depletion enhances bone morphogenetic protein-4 gene expression in a cultured mouse marrow straomal cell line ST2
    • Goseki-Sone M, Yamada A, Hamatani R, Mizoi L, Iimura T, Ezawa I 2002 Phosphatate depletion enhances bone morphogenetic protein-4 gene expression in a cultured mouse marrow straomal cell line ST2. Biochem Biophys Res Commun 299:395-399.
    • (2002) Biochem Biophys Res Commun , vol.299 , pp. 395-399
    • Goseki-Sone, M.1    Yamada, A.2    Hamatani, R.3    Mizoi, L.4    Iimura, T.5    Ezawa, I.6
  • 21
    • 0037869521 scopus 로고    scopus 로고
    • Bone formation following transplantation of genetically modified primary bone marrow stromal cells
    • Sugiyama O, Orimo H, Suzuki S, Yamashita K, Ito H, Shimada T 2003 Bone formation following transplantation of genetically modified primary bone marrow stromal cells. J Orthop Res 21:630-637.
    • (2003) J Orthop Res , vol.21 , pp. 630-637
    • Sugiyama, O.1    Orimo, H.2    Suzuki, S.3    Yamashita, K.4    Ito, H.5    Shimada, T.6
  • 25
    • 0030003796 scopus 로고    scopus 로고
    • Association of bone mineral density with polymorphism of the estrogen receptor gene
    • Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H 1996 Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 11:306-311.
    • (1996) J Bone Miner Res , vol.11 , pp. 306-311
    • Kobayashi, S.1    Inoue, S.2    Hosoi, T.3    Ouchi, Y.4    Shiraki, M.5    Orimo, H.6
  • 27
    • 0032972859 scopus 로고    scopus 로고
    • Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal woman
    • Hosoi T, Miyao M, Inoue S, Hoshino S, Shiraki M, Orimo H, Ouchi Y 1999 Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal woman. Calcif Tissue Int 64:205-208.
    • (1999) Calcif Tissue Int , vol.64 , pp. 205-208
    • Hosoi, T.1    Miyao, M.2    Inoue, S.3    Hoshino, S.4    Shiraki, M.5    Orimo, H.6    Ouchi, Y.7
  • 29
    • 0037369088 scopus 로고    scopus 로고
    • Association of a haplotype (196Phe/532Ser) in the Interleukin-1-Receptor- Associated (IRAK1) gene with low radial bone mineral density in two independent populations
    • Ishida R, Emi M, Ezura Y, Iwasaki H, Yoshida H, Suzuki T, Hosoi T, Inoue S, Shiraki M, Ito H, Orimo H 2003 Association of a haplotype (196Phe/532Ser) in the Interleukin-1-Receptor-Associated (IRAK1) gene with low radial bone mineral density in two independent populations. J Bone Miner Res 18:419-423.
    • (2003) J Bone Miner Res , vol.18 , pp. 419-423
    • Ishida, R.1    Emi, M.2    Ezura, Y.3    Iwasaki, H.4    Yoshida, H.5    Suzuki, T.6    Hosoi, T.7    Inoue, S.8    Shiraki, M.9    Ito, H.10    Orimo, H.11
  • 30
    • 10744221715 scopus 로고    scopus 로고
    • Association of molecular variants, Haplotypes, and linkage disequilibrium within the human vitamin D-binding protein (DBP) gene with postmenopausal bone mineral density
    • Ezura Y, Nakajima T, Kajita M, Ishida R, Inoue S, Yoshida H, Suzuki T, Shiraki M, Hosoi T, Orimo H, Emi M 2003 Association of molecular variants, Haplotypes, and linkage disequilibrium within the human vitamin D-binding protein (DBP) gene with postmenopausal bone mineral density. J Bone Miner Res 18:1642-1649.
    • (2003) J Bone Miner Res , vol.18 , pp. 1642-1649
    • Ezura, Y.1    Nakajima, T.2    Kajita, M.3    Ishida, R.4    Inoue, S.5    Yoshida, H.6    Suzuki, T.7    Shiraki, M.8    Hosoi, T.9    Orimo, H.10    Emi, M.11
  • 31
    • 0015274880 scopus 로고
    • Electron microscopic localization of alkaline phosphatase in the enamel organ of the young rat
    • Kurahashi Y, Yoshiki S 1972 Electron microscopic localization of alkaline phosphatase in the enamel organ of the young rat. Arch Oral Biol 17:155-163.
    • (1972) Arch Oral Biol , vol.17 , pp. 155-163
    • Kurahashi, Y.1    Yoshiki, S.2
  • 32
    • 0014690791 scopus 로고
    • The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis
    • Weber K, Osborn M 1969 The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis. J Biol Chem 244:4406-4412.
    • (1969) J Biol Chem , vol.244 , pp. 4406-4412
    • Weber, K.1    Osborn, M.2
  • 33
    • 0024268444 scopus 로고
    • Detection of minor Immunological differences among human 'universal-type' alkaline phosphatases
    • Goseki-Sone M, Oida S, Sasaki S 1988 Detection of minor Immunological differences among human 'universal-type' alkaline phosphatases. J Cell Biochem 38:155-163.
    • (1988) J Cell Biochem , vol.38 , pp. 155-163
    • Goseki-Sone, M.1    Oida, S.2    Sasaki, S.3
  • 34
    • 0023915850 scopus 로고
    • The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes
    • Thompson EA, Deeb S, Walker D, Motulsky AG 1988 The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet 42:113-124.
    • (1988) Am J Hum Genet , vol.42 , pp. 113-124
    • Thompson, E.A.1    Deeb, S.2    Walker, D.3    Motulsky, A.G.4
  • 36
    • 0035937857 scopus 로고    scopus 로고
    • Crystal structure of alkaline phosphatase from human placenta at 1.8 Å resolution. Implication for a substrate specificity
    • Le Du MH, Stigbrand T, Taussig J, Menez A, Stura EA 2001 Crystal structure of alkaline phosphatase from human placenta at 1.8 Å resolution. Implication for a substrate specificity. J Biol Chem 276:9158-9165.
    • (2001) J Biol Chem , vol.276 , pp. 9158-9165
    • Le Du, M.H.1    Stigbrand, T.2    Taussig, J.3    Menez, A.4    Stura, E.A.5
  • 37
    • 0036880994 scopus 로고    scopus 로고
    • G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family
    • Orimo H, Shin YS, Shimada T 2002 G317D mutation in the tissue- nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family. J Inherit Metab Dis 25:601-602.
    • (2002) J Inherit Metab Dis , vol.25 , pp. 601-602
    • Orimo, H.1    Shin, Y.S.2    Shimada, T.3
  • 38
    • 0026713191 scopus 로고
    • Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
    • Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 89:9924-9928.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 9924-9928
    • Henthorn, P.S.1    Raducha, M.2    Fedde, K.N.3    Lafferty, M.A.4    Whyte, M.P.5
  • 40
    • 0028024690 scopus 로고
    • Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
    • Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T 1994 Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 3:1683-1684.
    • (1994) Hum Mol Genet , vol.3 , pp. 1683-1684
    • Orimo, H.1    Hayashi, Z.2    Watanabe, A.3    Hirayama, T.4    Hirayama, T.5    Shimada, T.6
  • 42
    • 0033547447 scopus 로고    scopus 로고
    • Phosphate depletion enhances tissue-nonspecific alkaline phosphatase gene expression in a cultured mouse marrow stromal cell line ST2
    • Goseki-Sone M, Yamada A, Asahi K, Hirota A, Ezawa I, Iimura T 1999 Phosphate depletion enhances tissue-nonspecific alkaline phosphatase gene expression in a cultured mouse marrow stromal cell line ST2. Biochem Biophys Res Commun 265:24-28.
    • (1999) Biochem Biophys Res Commun , vol.265 , pp. 24-28
    • Goseki-Sone, M.1    Yamada, A.2    Asahi, K.3    Hirota, A.4    Ezawa, I.5    Iimura, T.6
  • 43
  • 44
    • 0015057271 scopus 로고
    • Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone
    • Russel RGG, Bisaz S, Donath A, Morgan DB, Fleisch H 1971 Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. J Clin Invest 50:961-969.
    • (1971) J Clin Invest , vol.50 , pp. 961-969
    • Russel, R.G.G.1    Bisaz, S.2    Donath, A.3    Morgan, D.B.4    Fleisch, H.5
  • 45
  • 46
    • 0035199295 scopus 로고    scopus 로고
    • The nucleoside triphosphate pyrophosphohydrolase isozyme PC-1 directly promotes cartilage calcification through chondrocyte apoptosis and increased calcium precipitation by mineralizing vesicles
    • Johnson K, Pritzker K, Coding J, Terkeltaub R 2001 The nucleoside triphosphate pyrophosphohydrolase isozyme PC-1 directly promotes cartilage calcification through chondrocyte apoptosis and increased calcium precipitation by mineralizing vesicles. J Rheumatol 28:2681-2691.
    • (2001) J Rheumatol , vol.28 , pp. 2681-2691
    • Johnson, K.1    Pritzker, K.2    Coding, J.3    Terkeltaub, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.