1 |
Fraser D, Kooh SW, Kind HP, Holick MF, Tanaka Y, DeLuca HF. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 ,25-dihydroxyvitamin D. N Engl J Med 1973;289:817-22.
DOI
ScienceOn
|
2 |
Scriver CR, Reade TM, DeLuca HF, Hamstra AJ. Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med 1978; 299:976-9.
DOI
ScienceOn
|
3 |
Delvin EE, Glorieux FH, Marie PJ, Pettifor JM. Vitamin D dependency: replacement therapy with calcitriol? J Pediatr 1981;99:26-34.
DOI
|
4 |
Feldman D, Malloy PJ, Gross C. Vitamin D: metabolism and action. In: Marcus R, Feldman D, Kelsey J, editors. Osteoporosis. 1st ed. San Diego: Academic Press, 1996; 205-35.
|
5 |
Strewler GJ, Rosenblatt M. Mineral metabolism. In: Felig P, Baxter JD, Frohman LA, editors. Endocrinology and Metabolism. 3rd ed. New York: McGraw-Hill, 1995;1407-516.
|
6 |
Portale AA, Miller WL. Human 25-hydroxyvitamin D-1 -hydroxylase: cloning, mutations, and gene expression. Pediatr Nephrol 2000;14:620-5.
DOI
ScienceOn
|
7 |
Breslau NA. Normal and abnormal regulation of 1,25(OH)2D synthesis. Am J Med Sci 1988;296:417-25.
DOI
ScienceOn
|
8 |
Kumar R. Metabolism of 1,25-dihydroxy vitamin D3. Physiol Rev 1984;64:478-504.
DOI
|
9 |
St-Arnaud R, Messerlian S, Moir JM, Ombdahl 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 1997;12:1552-9.
DOI
ScienceOn
|
10 |
Monkawa T, Yoshida T, Wakino S, Shinki T, Anazawa H, DeLuca HF, et al. Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 -hydroxylase. Biochem Biophys Res Commun 1997;239:527-33.
DOI
ScienceOn
|
11 |
Fu GK, Portale AA, Miller WL. Complete structure of the human gene for the vitamin D 1 -hydroxylase, P450c1 . DNA Cell Biol 1997;16:1499-507.
DOI
ScienceOn
|
12 |
Kitanaka S, Murayama A, Sakaki T, Inouye K, Seino Y, Fukumoto S, et al. No enzyme activity of 25-hydroxyvitamin D3 1 -hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. J Clin Endocrinol Metab 1999;84:4111-7.
DOI
|
13 |
Wang X, Zhang MYH, Miller WL, Portale AA. Novel gene mutations in patients with 1 -hydroxylase deficiency that confer partial enzyme activity in vitro. J Clin Endocrinol Metab 2002;87:2424-30.
DOI
ScienceOn
|
14 |
Porcu L, Meloni A, Casula L, Asunis I, Marini MG, Cao A, et al. A novel splicing defect (IVS6+1GT) in a patient with pseudovitamin D deficiency rickets. J Endocrinol Invest 2002;25:557-60.
DOI
|
15 |
Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, et al. Vitamin D 1 -hydroxylase gene mutations in patients with 1 -hydroxylase deficiency. J Clin Endocrinol Metab 2007;92:3177-82.
DOI
ScienceOn
|
16 |
Alzahrani AS, Zou M, Baitei EY, Alshaikh OM, Al-Rijjal RA, Meyer BF, et al. A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. J Clin Endocrinol Metab 2010;95:4176-83.
DOI
ScienceOn
|
17 |
Fraser DR, Kodicek E. Unique biosynthesis by kidney of a biologically active vitamin D metabolite. Nature 1970;228:764-6.
DOI
ScienceOn
|
18 |
Labuda M, Labuda D, Korab-Laskowska M, Cole DE, Zietkiewicz E, Weissenbach J, et al. Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet 1996;59:633-43.
|
19 |
Cooper DN, Krawczak M, Antonaratis SE. The nature and mechanism of human gene mutation. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995: 259-91.
|
20 |
Levinson G, Gutman GA. Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol 1987;4:203-21.
|
21 |
Brunette MG, Chan M, Ferriere C, Roberts KD. Site of 1,25 synthesis in the kidney. Nature 1978;276:287-9.
DOI
ScienceOn
|
22 |
Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, et al. Genetics of vitamin D 1 -hydroxylase deficiency in 17 families. Am J Hum Genet 1998;63:1694-702.
DOI
ScienceOn
|
23 |
Kitanaka S, Takeyama K, Murayama A, Sato T, Okumura K, Nogami M, et al. Inactivating mutations in the 25-hydroxyvitamin D3 1 -hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 1998;338:653-61.
DOI
ScienceOn
|
24 |
Fu GK, Lin D, Zhang MY, Bikle DD, Shackleton CHL, Miller WL, et al. Cloning of human 25-hydroxyvitamin D-1 -hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol Endocrinol 1997;11:1961-70.
DOI
ScienceOn
|
25 |
Yoshida T, Monkawa T, Tenenhouse HS, Goodyer P, Shinki T, Suda T, et al. Two novel 1 -hydroxylase mutations in French-Canadians with vitamin D dependency rickets type 1. Kidney Int 1998;54:1437-43.
DOI
ScienceOn
|
26 |
Smith SJ, Rucka AK, Berry JL, Davies M, Mylchreest S, Paterson CR, et al. Novel mutations in the 1 -hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. J Bone Miner Res 1999;14:730-9.
DOI
ScienceOn
|