SCOPUS 정보 검색 플랫폼

Volumn 54, Issue 5, 1998, Pages 1437-1443

Two novel 1α-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I

(9) Yoshida, Tadashi b Monkawa, Toshiaki b Tenenhouse, Harriet S b Goodyer, Paul b Shinki, Toshimasa b Suda, Tatsuo b Wakino, Shu b Hayashi, Matsuhiko a Saruta, Takao b

a KEIO UNIVERSITY (Japan)

b NONE

Author keywords

25 hydroxycholecalciferol 1 hydroxylase; Cytochrome P450; Gene mutation; Hypocalcemia; Mendelian disorder; Proximal tubules; Rachitic lesions; Vitamin D

Indexed keywords

BINDING PROTEIN; CALCIDIOL 1 MONOOXYGENASE; COMPLEMENTARY DNA; FERREDOXIN; HEME; VITAMIN D;

ARTICLE; BASE PAIRING; CANADA; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FOUNDER EFFECT; GENE AMPLIFICATION; GENE MUTATION; HUMAN; MALE; MOLECULAR CLONING; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RICKETS; STOP CODON; VITAMIN D DEFICIENCY; CHROMOSOME MAP; GENETICS; MUTATION;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; CHROMOSOME MAPPING; HUMANS; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RICKETS;

EID: 0031593494 PISSN: 00852538 EISSN: None Source Type: Journal
DOI: 10.1046/j.1523-1755.1998.00133.x Document Type: Article

Times cited : (85)

References (18)

1
- 0000104676
- Eine besondere form des primäre vitamin D-resistenten rachitis mit hypocalcämie und autosomal-dominanten Erbgang: Die hereditäre PseudoMangelrachitis
- PRADER A, ILLIG R, HEIERLI E: Eine besondere form des primäre vitamin D-resistenten rachitis mit hypocalcämie und autosomal-dominanten Erbgang: die hereditäre PseudoMangelrachitis. Helv Paediatr Acta 16:452-468, 1961
- (1961) Helv Paediatr Acta , vol.16 , pp. 452-468
- Prader, A.¹ Illig, R.² Heierli, E.³

2
- 0014754697
- Vitamin D dependency
- SCRIVER CR: Vitamin D dependency. Pediatrics 45:361-363, 1970
- (1970) Pediatrics , vol.45 , pp. 361-363
- Scriver, C.R.¹

3
- 0018133886
- Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease
- SCRIVER CR, READE TM, HAMSTRA AJ, DELUCA HF: Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med 299:976-979, 1978
- (1978) N Engl J Med , vol.299 , pp. 976-979
- Scriver, C.R.¹ Reade, T.M.² Hamstra, A.J.³ Deluca, H.F.⁴

4
- 0015929252
- Pathogenesis of hereditary vitamin D-dependent rickets: An inborn error of metabolism involving defective conversion of 25-hydroxyvitamin D to 1 α,25-dihydroxyvitamin D
- FRASER D, KOOH SW, KIND P, TANAKA Y, DELUCA HF: Pathogenesis of hereditary vitamin D-dependent rickets: an inborn error of metabolism involving defective conversion of 25-hydroxyvitamin D to 1 α,25-dihydroxyvitamin D. N Engl J Med 289:817-822, 1973
- (1973) N Engl J Med , vol.289 , pp. 817-822
- Fraser, D.¹ Kooh, S.W.² Kind, P.³ Tanaka, Y.⁴ Deluca, H.F.⁵

5
- 0019425356
- Vitamin D dependency: Replacement therapy with calcitriol
- DELVIN EE, GLORIEUX FH, MARIE PJ, PETTIFOR JM: Vitamin D dependency: Replacement therapy with calcitriol. J Pediatr 99:26-34, 1981
- (1981) J Pediatr , vol.99 , pp. 26-34
- Delvin, E.E.¹ Glorieux, F.H.² Marie, P.J.³ Pettifor, J.M.⁴

6
- 0026321320
- 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 55: 283-290, 1991
- (1991) Ann Hum Genet , vol.55 , pp. 283-290
- De Braekeleer, M.¹ Larochelle, J.²

7
- 0025369001
- Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis
- LABUDA M, MORGAN K, GLORIEUX FH: Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis. Am J Hum Genet 47:28-36, 1990
- (1990) Am J Hum Genet , vol.47 , pp. 28-36
- Labuda, M.¹ Morgan, K.² Glorieux, F.H.³

8
- 19244362432
- Linkage disequilibrium analysis in young populations: Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians
- LABUDA M, LABUDA D, KORAB-LASKOWSKA M, COLE DEC, ZIET-KIEWICZ E, WEISSENBACH J, POPOWSKA E, ROOT AW, GLORIEUX FH: Linkage disequilibrium analysis in young populations: Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet 59:633-643, 1996
- (1996) Am J Hum Genet , vol.59 , pp. 633-643
- Labuda, M.¹ Labuda, D.² Korab-Laskowska, M.³ Cole, D.E.C.⁴ Ziet-Kiewicz, E.⁵ Weissenbach, J.⁶ Popowska, E.⁷ Root, A.W.⁸ Glorieux, F.H.⁹

9
- 0019485450
- Localization of 25-hydroxyvitamin D lα-hydroxylase and 24-hydroxylase along the rat nephron
- KAWASHIMA H, TORIKAI S, KUROKAWA K: Localization of 25-hydroxyvitamin D lα-hydroxylase and 24-hydroxylase along the rat nephron. Proc Natl Acad Sci USA 78:1199-1203, 1981
- (1981) Proc Natl Acad Sci USA , vol.78 , pp. 1199-1203
- Kawashima, H.¹ Torikai, S.² Kurokawa, K.³

10
- 0030707951
- 3-1α-hydroxylase cDNA
- 3-1α-hydroxylase cDNA. Proc Natl Acad Sci USA 94:12920-12925, 1997
- (1997) Proc Natl Acad Sci USA , vol.94 , pp. 12920-12925
- Shinki, T.¹ Shimada, H.² Wakino, S.³ Anazawa, H.⁴ Hayashi, M.⁵ Saruta, T.⁶ Deluca, H.F.⁷ Suda, T.⁸

11
- 0001196827
- The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D deficiency rickets (PDDR) disease locus
- ST-ARNAUD R, MESSERLIAN S, MOIR JM, OMDAHL JL, GLORIEUX FH: The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D deficiency rickets (PDDR) disease locus. J Bone Miner Res 12:1552-1559. 1997
- (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

12
- 0030612651
- 3 1α-hydroxylase and vitamin D synthesis
- 3 1α-hydroxylase and vitamin D synthesis. Science 277:1827-1830, 1997
- (1997) Science , vol.277 , pp. 1827-1830
- Takeyama, K.¹ Kitanaka, S.² Sato, T.³ Kobori, M.⁴ Yanagisawa, J.⁵ Kato, S.⁶

13
- 0031581091
- 3 1α-hydroxylase
- 3 1α-hydroxylase. Bioehem Biophys Res Commun 239:527-533, 1997
- (1997) Bioehem Biophys Res Commun , vol.239 , pp. 527-533
- Monkawa, T.¹ Yoshida, T.² Wakino, S.³ Shinki, T.⁴ Anazawa, H.⁵ Deluca, H.F.⁶ Suda, T.⁷ Hayashi, M.⁸ Saruta, T.⁹

14
- 0030782757
- Cloning of human 25-hydroxyvitamin D-1α-hydroxylase and mutations causing vitamin D-dependent rickets type 1
- FU GK, LIN D, ZHANG MYH, BIKLE DD, SHACKLETON CHL, MILLER WL, PORTALE AA: Cloning of human 25-hydroxyvitamin D-1α-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol Endocrinol 11:1961-1970, 1997
- (1997) Mol Endocrinol , vol.11 , pp. 1961-1970
- Fu, G.K.¹ Lin, D.² Zhang, M.Y.H.³ Bikle, D.D.⁴ Shackleton, C.H.L.⁵ Miller, W.L.⁶ Portale, A.A.⁷

15
- 0032485525
- 3 1α-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
- 3 1α-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 338:653-661, 1998
- (1998) N Engl J Med , vol.338 , pp. 653-661
- Kitanaka, S.¹ Takeyama, K.² Murayama, A.³ Sato, T.⁴ Okumura, K.⁵ Nogami, M.⁶ Hasegawa, Y.⁷ Niimi, H.⁸ Yanagisawa, J.⁹ Tanaka, T.¹⁰ Kato, S.¹¹

16
- 0031410426
- Complete structure of the human gene for the vitamin D 1α-hydroxylase, P450c1α
- FU GK, PORTALE AA, MILLER WL: Complete structure of the human gene for the vitamin D 1α-hydroxylase, P450c1α. DNA Cell Biol 16:1499-1507, 1997
- (1997) DNA Cell Biol , vol.16 , pp. 1499-1507
- Fu, G.K.¹ Portale, A.A.² Miller, W.L.³

17
- 0023256559
- Slipped-strand mispairing: A major mechanism for DNA sequence evolution
- LEVINSON G, GUTMAN GA: Slipped-strand mispairing: A major mechanism for DNA sequence evolution. Mol Biol Evol 4:203-221, 1987
- (1987) Mol Biol Evol , vol.4 , pp. 203-221
- Levinson, G.¹ Gutman, G.A.²

18
- 0025756913
- Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)
- DE BRAEKELEER M: Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum Hered 41:141-146, 1991
- (1991) Hum Hered , vol.41 , pp. 141-146
- De Braekeleer, M.¹

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