Title: Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
Abstract: Human MutationVolume 11, Issue S1 p. S263-S267 Mutation in BriefFree Access Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients Masae Goseki-Sone, Corresponding Author Masae Goseki-Sone Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanDepartment of Biochemistry, Faculty of Denistry, Tokyo Medical and Dental University, 1-5-45 Yushirna, Bunkyo-ku, Tokyo, 113 JapanSearch for more papers by this authorHideo Orimo, Hideo Orimo Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, JapanSearch for more papers by this authorTadahiro Iimura, Tadahiro Iimura Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this authorYuzo Takagi, Yuzo Takagi Department of Pedodontics, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this authorHisashi Watanabe, Hisashi Watanabe Department of Periodontology, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this authorKazuhisa Taketa, Kazuhisa Taketa Department of Public Health, Okayama University Medical School, Okayama, JapanSearch for more papers by this authorSeiji Sato, Seiji Sato Department of Pediatrics, Keio University, Tokyo, JapanSearch for more papers by this authorHideaki Mayanagi, Hideaki Mayanagi Department of Pedodontics, Faculty of Dentistry, Tohoku University, Sendai, JapanSearch for more papers by this authorTakashi Shimada, Takashi Shimada Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, JapanSearch for more papers by this authorShinichiro Oida, Shinichiro Oida Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this author Masae Goseki-Sone, Corresponding Author Masae Goseki-Sone Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanDepartment of Biochemistry, Faculty of Denistry, Tokyo Medical and Dental University, 1-5-45 Yushirna, Bunkyo-ku, Tokyo, 113 JapanSearch for more papers by this authorHideo Orimo, Hideo Orimo Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, JapanSearch for more papers by this authorTadahiro Iimura, Tadahiro Iimura Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this authorYuzo Takagi, Yuzo Takagi Department of Pedodontics, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this authorHisashi Watanabe, Hisashi Watanabe Department of Periodontology, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this authorKazuhisa Taketa, Kazuhisa Taketa Department of Public Health, Okayama University Medical School, Okayama, JapanSearch for more papers by this authorSeiji Sato, Seiji Sato Department of Pediatrics, Keio University, Tokyo, JapanSearch for more papers by this authorHideaki Mayanagi, Hideaki Mayanagi Department of Pedodontics, Faculty of Dentistry, Tohoku University, Sendai, JapanSearch for more papers by this authorTakashi Shimada, Takashi Shimada Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, JapanSearch for more papers by this authorShinichiro Oida, Shinichiro Oida Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Tokyo, JapanSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110184Citations: 33AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat References Goseki (Sone) M, Oida S, Takagi Y, Okuyama T, Watanabe J, Sasaki S (1990) Immunological study on hypophosphatasia. Clinica Chimica Acta 190: 263– 268. 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. Greenberg CR, Taylor CLD, Haworth JC, Seagent LE, Philipps S, Triggs-Raine B, Chodirker BN (1993) AhomoallelicGly317» Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17: 215– 217. Henthorn PS, Raducha M, Kadesch T, Weiss MJ, Harris H (1988) Sequence and characterization of the human intestinal alkaline phosphatase. J Biol Chem 263: 12011– 12019. 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. Kim EE, Wyckoff HW (1989) Structure of alkaline phosphatases. Clinica Chimica Acta 186: 175– 188. Knoll BJ, Rothblum N, Longley M (1988) Nucleotide sequence of the human placental alkaline phosphatase gene. J Biol Chem 263: 12020– 12027. 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: 993– 1000. 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. Orimo H, Nakajima E, Hayashi Z, Kijima K, Watanabe A, Tenjin H, Araki T, Shimada T (1996) First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Prenat Diagn 16: 559– 563. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain termination inhibitors. Proc Natl Acad Sci USA 74: 5463– 5467. Terao M, Mintz B (1987) Cloning and characterization of a cDNA coding for mouse placental alkaline phosphatase. Proc Natl Acad Sci USA 84: 7051– 7055. Weiss MJ, Henthorn PS, Lafferty MA, Slaughter C, Raducha M, Harris H (1986) Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase. Proc Natl Acad USA 83: 7182– 7186. Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H (1988a) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 85: 7666– 7669. Weiss MJ, Ray K, Henthorn PS, Lamb B, Kadesch T, Harris H (1988b) Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem 263: 12002– 12010. Whyte MP (1989) Hypophosphatasia. In WA Peck (ed): Bone and Mineral Research, Vol 6. New York: Elsevier, pp 175– 218. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S263-S267 ReferencesRelatedInformation
Publication Year: 1998
Publication Date: 1998-01-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 59
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