SCOPUS 정보 검색 플랫폼

Volumn 20, Issue 1, 2002, Pages 28-33

Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia

(6) Orimo, Hideo a Goseki Sone, Masae b Inoue, Mitsuko c Tsubakio, Yuriko d Sakiyama, Takeshi e Shimada, Takashi a

a NIPPON MEDICAL SCHOOL (Japan)

b JAPAN WOMEN'S UNIVERSITY (Japan)

c SHOWA UNIVERSITY SCHOOL OF DENTISTRY (Japan)

d Osaka City Juso Municipal Hospital (Japan)

e ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE (Japan)

Author keywords

Deletion; Hypophosphatasia; Single nucleotide polymorphism; Tissue nonspecific alkaline phosphatase

Indexed keywords

ALKALINE PHOSPHATASE; COMPLEMENTARY DNA;

ALLELE; ARTICLE; CASE REPORT; CAUCASIAN; CHILD; CODON; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; HAPLOTYPE; HUMAN; HYPOPHOSPHATASIA; JAPAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; ALKALINE PHOSPHATASE; ALLELES; DNA; FEMALE; HAPLOTYPES; HUMANS; HYPOPHOSPHATASIA; JAPAN; LIVER; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RESTRICTION MAPPING;

EID: 0036154262 PISSN: 09148779 EISSN: None Source Type: Journal
DOI: 10.1007/s774-002-8443-4 Document Type: Article

Times cited : (27)

References (27)

1
- 0001594259
- Hypophosphatasia
- Scriver CR, Beaudet AL, Sly WS, Valle D (eds), McGraw-Hill, New York
- (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th edn. , vol.3 , pp. 4095-4111
- Whyte, M.P.¹

2
- 0011322884
- A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia
- (1988) Proc Natl Acad Sci USA , vol.85 , pp. 7666-7669
- Weiss, M.J.¹ Cole, D.E.C.² Ray, K.³ Whyte, M.P.⁴ Lafferty, M.A.⁵ Mulivor, R.A.⁶ Harris, H.⁷

3
- 0026713191
- Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
- (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

4
- 0027337157
- 317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites
- (1993) Genomics , vol.17 , pp. 215-217
- Greenberg, C.R.¹ Taylor, C.L.D.² Haworth, J.C.³ Seargeant, L.E.⁴ Philipps, S.⁵ Triggs-Raine, B.⁶ Chodirker, B.N.⁷

5
- 0029931602
- Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia
- (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
- 0028024690
- Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
- (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

7
- 10544254690
- Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia
- (1996) J Clin Endocrinol Metab , vol.81 , pp. 4458-4461
- Ozono, K.¹ Yamagata, M.² Michigami, T.³ Nakajima, S.⁴ Sakai, N.⁵ Cai, G.⁶ Satomura, K.⁷ Yasui, N.⁸ Okada, S.⁹ Nakayama, M.¹⁰

8
- 0031172625
- Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification
- (1997) Genomics , vol.42 , pp. 364-366
- Orimo, H.¹ Goseki-Sone, M.² Sato, S.³ Shimada, T.⁴

9
- 17744417675
- Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients
- (1998) Hum Mutat Suppl , 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
- 0031613674
- A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia
- (1998) J Hum Genet , vol.43 , pp. 160-164
- Sugimoto, N.¹ Iwamoto, S.² Hoshino, Y.³ Kajii, E.⁴

11
- 0034095201
- Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene
- (2000) Eur J Pediatr , vol.159 , pp. 375-379
- Mochizuki, H.¹ Saito, M.² Michigami, T.³ Ohashi, H.⁴ Koda, N.⁵ Yamaguchi, S.⁶ Ozono, K.⁷

12
- 13144249219
- Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
- (1998) Eur J Hum Genet , vol.6 , pp. 308-314
- Mornet, E.¹ Taillandier, A.² Peyramaure, S.³ Kaper, F.⁴ Muller, F.⁵ Brenner, R.⁶ Bussière, P.⁷ Freisinger, P.⁸ Godard, J.⁹ Le Merrer, M.¹⁰ Oury, J.F.¹¹ Plauchu, H.¹² Puddu, R.¹³ Rival, J.M.¹⁴ Superti-Furga, A.¹⁵ Touraine, R.L.¹⁶ Serre, J.L.¹⁷ Simon-Bouy, B.¹⁸

13
- 0032604016
- Characterization of eleven novel mutation (M54L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia
- (1999) Hum Mutat , vol.13 , pp. 171-172
- Taillandier, A.¹ Zurutuza, L.² Muller, F.³ Simon-Bouy, 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

14
- 0032589092
- Correlations of genotype and phenotype in hypophosphatasia
- (1999) Hum Mol Genet , vol.8 , pp. 1039-1046
- Zurutuza, L.¹ Muller, F.² Gibrat, J.F.³ Taillandier, A.⁴ Simon-Bouy, B.⁵ Serre, J.L.⁶ Mornet, E.⁷

15
- 0034145806
- Fifteen new mutations (-195C→T, L-12X, 298-2A→G, T117N, A159T, R229S, 997+2T→A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia
- (2000) Hum Mutat , vol.15 , pp. 293
- Taillandier, A.¹ Cozien, E.² Muller, F.³ Merrien, Y.⁴ Bonnin, E.⁵ Fribourg, C.⁶ Simon-Bouy, B.⁷ Serre, J.L.⁸ Bieth, E.⁹ Brenner, R.¹⁰ Cordier, M.P.¹¹ De Bie, S.¹² Fellmann, F.¹³ Freisinger, P.¹⁴ Hesse, V.¹⁵ Hennekam, R.C.M.¹⁶ Josifova, D.¹⁷ Kerzin-Storrar, L.¹⁸ Leporrier, N.¹⁹ Zabot, M.T.²⁰ Mornet, E.²¹ more..

16
- 0035196396
- Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia
- in press
- (2001) J Bone Miner Res , vol.16
- Orimo, H.¹ Girschick, H.J.² Goseki-Sone, M.³ Ito, M.⁴ Oda, K.⁵ Shimada, T.⁶

17
- 0023696449
- Structure of the human liver/bone/kidney-type alkaline phosphatase
- (1988) J Biol Chem , vol.263 , pp. 12002-12010
- Weiss, M.J.¹ Ray, K.² Henthorn, P.S.³ Lamb, B.⁴ Kadesch, T.⁵ Harris, H.⁶

18
- 0033987736
- Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
- (2000) Hum Mutat , vol.15 , pp. 7-12
- Den Dunnen, J.T.¹ Antonarakis, S.E.²

19
- 0000708773
- Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase
- (1986) Proc Natl Acad Sci USA , vol.83 , pp. 7182-7186
- Weiss, M.J.¹ Henthorn, P.S.² Lafferty, M.A.³ Slaughter, C.⁴ Raducha, M.⁵ Harris, H.⁶

20
- 0034113511
- Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene
- (2000) Hum Mutat , vol.15 , pp. 309-315
- Mornet, E.¹

21
- 0031759499
- Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients
- (1998) J Bone Miner Res , vol.13 , pp. 1827-1834
- Goseki-Sone, M.¹ Orimo, H.² Iimura, T.³ Miyazaki, H.⁴ Oda, K.⁵ Shibata, H.⁶ Yanagishita, M.⁷ Takagi, Y.⁸ Watanabe, H.⁹ Shimada, T.¹⁰ Oida, S.¹¹

22
- 15444357168
- Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras
- (1998) J Clin Endocrinol Metab , vol.83 , pp. 3936-3942
- Cai, G.¹ Michigami, T.² Yamamoto, T.³ Yasui, N.⁴ Satomura, K.⁵ Yamagata, M.⁶ Shima, M.⁷ Nakajima, S.⁸ Mushiake, S.⁹ Okada, S.¹⁰ Ozono, K.¹¹

23
- 33846176524
- Perinatal/lethal form of hypophosphatasia: A case report and successful prenatal molecular diagnosis
- (1998) J Hum GeneT , vol.4 , Issue.SUPPL. , pp. 118
- Zenri, H.¹ Ohtake, A.² Hazeyama, A.³ Harashima, H.⁴ Suzuki, H.⁵ Miyaji, T.⁶ Sasaki, T.⁷ Orimo, H.⁸ Shimada, T.⁹ Goseki-Sone, M.¹⁰

24
- 0026541542
- Phenotypically dissimilar hypophosphatasia in two sibships
- (1992) Am J Med Gene , vol.42 , pp. 117-121
- Macfarlane, J.D.¹ Kroon, H.M.² Van den Harten, J.J.³

25
- 0025181742
- Structure of alkaline phosphatases
- (1989) Clin Chim Acta , vol.186 , pp. 175-188
- Kim, E.E.¹ Wyckoff, H.W.²

26
- 0001442791
- Apparent dominant inheritance of hypophosphatasia
- (1962) Arch Intern Med , vol.110 , pp. 191-198
- Silverman, J.L.¹

27
- 0021257603
- Adult hypophosphatasia without apparent skeletal disease: "Odontohy-pophosphatasia" in four heterozygote members of a family
- (1984) Klin Wochenschr , vol.62 , pp. 371-376
- Eberle, F.¹ Hartenfels, S.² Pralle, H.³ Käbisch, A.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.