메뉴 건너뛰기




Volumn 15, Issue 4, 2000, Pages 309-315

Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

Author keywords

Alkaline phosphatase; ALPL; Dominant transmission; Hypophosphatasia; TNSALP

Indexed keywords

ALKALINE PHOSPHATASE;

EID: 0034113511     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C     Document Type: Article
Times cited : (136)

References (35)
  • 2
    • 0021079828 scopus 로고
    • Clinical, laboratory, and genetic investigations of hypophosphatasia: Support for autosomal dominant inheritance with homozygous lethality
    • Eastman JR, Bixler D. 1983. Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. J Craniofac Genet Dev Biol 3:213-234.
    • (1983) J Craniofac Genet Dev Biol , vol.3 , pp. 213-234
    • Eastman, J.R.1    Bixler, D.2
  • 3
    • 0021257603 scopus 로고
    • Adult hypophosphatasia without apparent skeletal disease: "Ondotohypophosphatasia" in four heterozygote members of a family
    • Eberic F, Hartenfels S, Pralle H, Kabish A. 1984. Adult hypophosphatasia without apparent skeletal disease: "ondotohypophosphatasia" in four heterozygote members of a family. Klin Wochenschr 62:371.
    • (1984) Klin Wochenschr , vol.62 , pp. 371
    • Eberic, F.1    Hartenfels, S.2    Pralle, H.3    Kabish, A.4
  • 4
    • 0029931602 scopus 로고    scopus 로고
    • Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia
    • Fedde KN, Michell MP, Henthorn PS, Whyte MP. 1996. Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J Clin Endocrinol Metab 81:2587-2594.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 2587-2594
    • Fedde, K.N.1    Michell, M.P.2    Henthorn, P.S.3    Whyte, M.P.4
  • 6
    • 17544395958 scopus 로고    scopus 로고
    • Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317Asp substitution associated with lethal hypophosphatasia
    • Fukushi M, Amizuka N, Hoshi K, Ozawa H, Kumagai H, Omura S, Misumi Y, Ikehara Y and Oda K. 1998. Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317Asp substitution associated with lethal hypophosphatasia. Biochem Biophys Res Com 246:613-618.
    • (1998) Biochem Biophys Res Com , 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
  • 7
    • 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 Mut suppl 1:3263-267.
    • (1998) Hum Mut Suppl , vol.1 , pp. 3263-3267
    • 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
    • 0026713191 scopus 로고
    • Different 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 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
  • 11
    • 0028861934 scopus 로고
    • Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations
    • Henthorn PS, Whyte MR 1995. Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. Prenatal Diagnosis 15:1001-1006.
    • (1995) Prenatal Diagnosis , vol.15 , pp. 1001-1006
    • Henthorn, P.S.1    Whyte, M.R.2
  • 12
    • 0001108105 scopus 로고    scopus 로고
    • Hypophosphatasia mutation D361V exhibits dominant effects both in vivo and in vitro
    • abstract
    • Henthorn PS, Ferrero A, Fedde K, Coburn SP, Whyte MP. 1996. Hypophosphatasia mutation D361V exhibits dominant effects both in vivo and in vitro. Am J Hum Genet 59:A199 (abstract).
    • (1996) Am J Hum Genet , vol.59
    • Henthorn, P.S.1    Ferrero, A.2    Fedde, K.3    Coburn, S.P.4    Whyte, M.P.5
  • 13
    • 0032817082 scopus 로고    scopus 로고
    • Hypophosphatasia: Diagnostic application of linked DNA markers in the dominantly inherited form
    • Iqbal SJ, Plaha DS, Linforth GH, Dalgleish R. 1999. Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited form. Clin Sci 97:73-78.
    • (1999) Clin Sci , vol.97 , pp. 73-78
    • Iqbal, S.J.1    Plaha, D.S.2    Linforth, G.H.3    Dalgleish, R.4
  • 14
    • 0025367098 scopus 로고
    • Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: Two kinds of mRNA from a single gene
    • Matsuura S, Kishi F, Kajii T. 1990.Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene. Biochem Biophys Res Commun 168(3):993-1000.
    • (1990) Biochem Biophys Res Commun , vol.168 , Issue.3 , pp. 993-1000
    • Matsuura, S.1    Kishi, F.2    Kajii, T.3
  • 16
    • 0032818867 scopus 로고    scopus 로고
    • Correlation of alkaline phosphatase determination and analysis of the tissue-nonspecific ALP gene in prenatal diagnosis of severe hypophosphatasia
    • Mornet E, Muller F, Ngo S, Taillandier A, Simon-Bouy B, Maire I, Oury JF. 1999a. Correlation of alkaline phosphatase determination and analysis of the tissue-nonspecific ALP gene in prenatal diagnosis of severe hypophosphatasia. Prenat Diagn 19:755-757.
    • (1999) Prenat Diagn , vol.19 , pp. 755-757
    • Mornet, E.1    Muller, F.2    Ngo, S.3    Taillandier, A.4    Simon-Bouy, B.5    Maire, I.6    Oury, J.F.7
  • 17
    • 0343919355 scopus 로고    scopus 로고
    • Characterization of a point mutation in the tissue-nonspecific alkaline phosphatase gene in a family with dominant hypophosphatasia
    • abstract
    • Mornet E, Cozien E, Muller F, Gibrat JF, Bonnin E, Taillandier A, Hu J, Simmer J, Simon-Bouy B, Serre JL. 1999b. Characterization of a point mutation in the tissue-nonspecific alkaline phosphatase gene in a family with dominant hypophosphatasia. Eur J Hum Genet 7 (suppl 1):124 (abstract).
    • (1999) Eur J Hum Genet , vol.7 , Issue.SUPPL. 1 , pp. 124
    • Mornet, E.1    Cozien, E.2    Muller, F.3    Gibrat, J.F.4    Bonnin, E.5    Taillandier, A.6    Hu, J.7    Simmer, J.8    Simon-Bouy, B.9    Serre, J.L.10
  • 18
    • 0028024690 scopus 로고
    • Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
    • Orimo H, Haysshi 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 Molec Genet 3(9):1683-1684.
    • (1994) Hum Molec Genet , vol.3 , Issue.9 , pp. 1683-1684
    • Orimo, H.1    Haysshi, Z.2    Watanabe, A.3    Hirayama, T.4    Hirayama, T.5    Shimada, T.6
  • 20
    • 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
  • 22
    • 0010728741 scopus 로고
    • Hypophosphatasia
    • Stanbury JB, Wyngaarden JB, Fredickson DS, Goldstein JH, Brown MS, eds. New York: McGraw-Hill
    • Rasmussen H. 1983. Hypophosphatasia. In: The metabolic basis of inherited disease. Stanbury JB, Wyngaarden JB, Fredickson DS, Goldstein JH, Brown MS, eds. New York: McGraw-Hill. p 1497-1507.
    • (1983) The Metabolic Basis of Inherited Disease , pp. 1497-1507
    • Rasmussen, H.1
  • 23
    • 0031971180 scopus 로고    scopus 로고
    • Defective intracellular transport of tissue-nonspecific alkaline phosphatase with Ala162Thr 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 Ala162Thr mutation associated with lethal hypophosphatasia. J Biochem (Tokyo) 123:968-977.
    • (1998) J Biochem (Tokyo) , 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
  • 24
    • 0031613674 scopus 로고    scopus 로고
    • A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia
    • Sugimoto N, Iwamoto S, Hoshimo Y, Kajii E. 1998. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. J Hum Genet 43:160-164.
    • (1998) J Hum Genet , vol.43 , pp. 160-164
    • Sugimoto, N.1    Iwamoto, S.2    Hoshimo, Y.3    Kajii, E.4
  • 25
    • 0032604016 scopus 로고    scopus 로고
    • Characterization of eleven novel mutations (M45L, R119H, 544de1G, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia
    • Taillandier A, Zurutuza L, Muller F, Simon-Bony B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E. 1999. Characterization of eleven novel mutations (M45L, R119H, 544de1G, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Hum Mutat 13:171-172.
    • (1999) Hum Mutat , vol.13 , pp. 171-172
    • Taillandier, A.1    Zurutuza, L.2    Muller, F.3    Simon-Bony, B.4    Serre, J.L.5    Bird, L.6    Brenner, R.7    Boute, O.8    Cousin, J.9    Gaillard, D.10    Heidemann, P.H.11    Steinmann, B.12    Wallot, M.13    Mornet, E.14
  • 31
    • 0018718890 scopus 로고
    • Adult hypophosphatasia: Clinical, laboratory and genetic investigation of a large kindred with review of the literature
    • Whyte MP, Fallon MD, Murphy WA. 1979. Adult hypophosphatasia: clinical, laboratory and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore) 58:329-347.
    • (1979) Medicine (Baltimore) , vol.58 , pp. 329-347
    • Whyte, M.P.1    Fallon, M.D.2    Murphy, W.A.3
  • 32
    • 0019940289 scopus 로고
    • Adult hypophosphatasia with chondrocalcinosis and arthropathy: Variable penetrance of hypophosphatasemia in a large Oklahoma kindred
    • Whyte MP, Fallon MD, Murphy WA. 1982. Adult hypophosphatasia with chondrocalcinosis and arthropathy: variable penetrance of hypophosphatasemia in a large Oklahoma kindred. Am J Med 72:631.
    • (1982) Am J Med , vol.72 , pp. 631
    • Whyte, M.P.1    Fallon, M.D.2    Murphy, W.A.3
  • 34
    • 0027930471 scopus 로고
    • Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization
    • Whyte MP. 1994. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439-461.
    • (1994) Endocr Rev , vol.15 , pp. 439-461
    • Whyte, M.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.