-
1
-
-
0010096540
-
Historical Overview
-
D. Feldman, F.H. Glorieux, & J.W. Pike. San Diego: Academic Press, San Diego
-
DeLuca H.F. Historical Overview. Feldman D., Glorieux F.H., Pike J.W. Vitamin D. 1997;3-11 Academic Press, San Diego, San Diego.
-
(1997)
Vitamin D
, pp. 3-11
-
-
DeLuca, H.F.1
-
2
-
-
84941394487
-
Uber das antirachitisch wirksame bestrahlungs-produkt aus 7-dehydro-cholesterin
-
Windaus A., Schenck F., von Werder F. Uber das antirachitisch wirksame bestrahlungs-produkt aus 7-dehydro-cholesterin. HopPe-Seylers Z Physiol Chem. 1936;100-103.
-
(1936)
HopPe-Seylers Z Physiol Chem
, pp. 100-103
-
-
Windaus, A.1
Schenck, F.2
Von Werder, F.3
-
3
-
-
0000104676
-
Eine bedondere Form der primaren Vitamin D resistenten Rachitis mit Hypocalcamie und autosomal-dominantem Erbgang
-
Prader A., Illig R., Heierli E. Eine bedondere Form der primaren Vitamin D resistenten Rachitis mit Hypocalcamie und autosomal-dominantem Erbgang. Helva Paediatr Acta. 16:1961;452-468.
-
(1961)
Helva Paediatr Acta
, vol.16
, pp. 452-468
-
-
Prader, A.1
Illig, R.2
Heierli, E.3
-
4
-
-
0018220501
-
A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D
-
Marx S.J., Spiegel A.M., Brown E.M., Gardner D.G., Downs R.W., Attie M., Hamstra A.K., DeLuca H.F. A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D. J Clin Endocrinol Metab. 47:1978;1303-1310.
-
(1978)
J Clin Endocrinol Metab
, vol.47
, pp. 1303-1310
-
-
Marx, S.J.1
Spiegel, A.M.2
Brown, E.M.3
Gardner, D.G.4
Downs, R.W.5
Attie, M.6
Hamstra, A.K.7
DeLuca, H.F.8
-
5
-
-
0014598163
-
Metabolism of vitamin D. A new cholecalciferol metabolite, involving loss of hydrogen at C-1, in chick intestinal nuclei
-
Lawson D.E., Wilson P.W., Kodicek E. Metabolism of vitamin D. A new cholecalciferol metabolite, involving loss of hydrogen at C-1, in chick intestinal nuclei. Kodicek Biochem J. 115:1969;269-277.
-
(1969)
Kodicek Biochem J
, vol.115
, pp. 269-277
-
-
Lawson, D.E.1
Wilson, P.W.2
Kodicek, E.3
-
6
-
-
0015212896
-
Isolation and identification of 1,25-dihydroxycholecalciferol. A metabolite of vitamin D active in intestine
-
Holick M.F., Schnoes H.K., DeLuca H.G., Suda T., Cousins R.J. Isolation and identification of 1,25-dihydroxycholecalciferol. A metabolite of vitamin D active in intestine. Biochemistry. 10:1971;2799-2804.
-
(1971)
Biochemistry
, vol.10
, pp. 2799-2804
-
-
Holick, M.F.1
Schnoes, H.K.2
DeLuca, H.G.3
Suda, T.4
Cousins, R.J.5
-
7
-
-
0014409530
-
The association of a metabolite of vitamin D3 with intestinal mucosa chromatin in vivo
-
Haussler M.R., Myrtle J.F., Norman A.W. The association of a metabolite of vitamin D3 with intestinal mucosa chromatin in vivo. J Biol Chem. 243:1968;4055-4064.
-
(1968)
J Biol Chem
, vol.243
, pp. 4055-4064
-
-
Haussler, M.R.1
Myrtle, J.F.2
Norman, A.W.3
-
8
-
-
0015929252
-
Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25- hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D
-
Fraser D., Kooh S.W., Kind H.P., Holick M.F., Tanaka Y., DeLuca H.F. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25- hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N Engl J Med. 289:1973;817-822.
-
(1973)
N Engl J Med
, vol.289
, pp. 817-822
-
-
Fraser, D.1
Kooh, S.W.2
Kind, H.P.3
Holick, M.F.4
Tanaka, Y.5
DeLuca, H.F.6
-
9
-
-
0002896476
-
Vitamin D Pseudodeficiency
-
D. Feldman, F.H. Glorieux, & J.W. Pike. San Diego: Academic Press
-
Glorieux F.H., St. Arnaud R. Vitamin D Pseudodeficiency. Feldman D., Glorieux F.H., Pike J.W. Vitamin D. 1997;755-764 Academic Press, San Diego.
-
(1997)
Vitamin D
, pp. 755-764
-
-
Glorieux, F.H.1
St. Arnaud, R.2
-
10
-
-
0002418732
-
Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
-
D. Feldman, F.H. Glorieux, & J.W. Pike. San Diego: Acadmic Press
-
Malloy P.J., Pike J.W., Feldman D. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets. Feldman D., Glorieux F.H., Pike J.W. Vitamin D. 1997;765-788 Acadmic Press, San Diego.
-
(1997)
Vitamin D
, pp. 765-788
-
-
Malloy, P.J.1
Pike, J.W.2
Feldman, D.3
-
11
-
-
0041809879
-
Llinisch fragen der calciumstoffwechselstorungen beim schwein
-
Plonait H. Llinisch fragen der calciumstoffwechselstorungen beim schwein. H Plonait Deutsche Tierarztliche Wochenschrift. 69:1962;879-1202.
-
(1962)
H Plonait Deutsche Tierarztliche Wochenschrift
, vol.69
, pp. 879-1202
-
-
Plonait, H.1
-
12
-
-
0022628076
-
Absence of renal 25-hydroxycholecalciferol-1-hydroxylase activity in a pig strain with vitamin D-dependent rickets
-
Winkler I., Schreiner F., Harmeyer J. Absence of renal 25-hydroxycholecalciferol-1-hydroxylase activity in a pig strain with vitamin D-dependent rickets. Calcif Tissue Int. 38:1986;87-94.
-
(1986)
Calcif Tissue Int
, vol.38
, pp. 87-94
-
-
Winkler, I.1
Schreiner, F.2
Harmeyer, J.3
-
14
-
-
0026728320
-
The effects of 1,25-dihydroxyvitamin D-3 deficiency on Ca(2+)-transport and Ca(2+)-uptake into brush-border membrane vesicles from pig small intestine
-
Kaune R., Kassianoff I., Schroder B., Harmeyer J. The effects of 1,25-dihydroxyvitamin D-3 deficiency on Ca(2+)-transport and Ca(2+)-uptake into brush-border membrane vesicles from pig small intestine. Biochim Biophys Acta. 1109:1992;187-194.
-
(1992)
Biochim Biophys Acta
, vol.1109
, pp. 187-194
-
-
Kaune, R.1
Kassianoff, I.2
Schroder, B.3
Harmeyer, J.4
-
15
-
-
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 J.M., Omdahl J.L., Glorieux F.H. The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J Bone Miner Res. 12:1997;1552-1559.
-
(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
-
16
-
-
0032471514
-
Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
-
Wang J.R., Lin C.J., Burridge S.M., Fu G.K., Labuda M., Portale A.A., Miller W.L. Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am J Hum Genet. 63:1998;1694-1702.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1694-1702
-
-
Wang, J.R.1
Lin, C.J.2
Burridge, S.M.3
Fu, G.K.4
Labuda, M.5
Portale, A.A.6
Miller, W.L.7
-
17
-
-
0032485525
-
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
-
Kitanaka S., Takeyama K., Murayama A., Sato T., Okumura K., Nogami M., Hasegawa Y., Niimi H., Yanagisawa J., Tanaka T., Kato S. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med. 338:1998;653-661.
-
(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
-
18
-
-
0033306920
-
No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation
-
Kitanaka S., Murayama A., Sakaki T., Inouye K., Seino Y., Fukumoto S., Shima M., Yukizane S., Takayanagi M., Niimi H., Takeyama K., Kato S. No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. J Clin Endocrinol Metab. 84:1999;4111-4117.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4111-4117
-
-
Kitanaka, S.1
Murayama, A.2
Sakaki, T.3
Inouye, K.4
Seino, Y.5
Fukumoto, S.6
Shima, M.7
Yukizane, S.8
Takayanagi, M.9
Niimi, H.10
Takeyama, K.11
Kato, S.12
-
19
-
-
0014232702
-
An inherited disorder of calcium metabolism in the pig (hereditary rickets)
-
Meyer H., Plonait H. An inherited disorder of calcium metabolism in the pig (hereditary rickets). Zentralbl Veterinarmed. 15:1968;481-483.
-
(1968)
Zentralbl Veterinarmed
, vol.15
, pp. 481-483
-
-
Meyer, H.1
Plonait, H.2
-
20
-
-
0032905867
-
Cloning of porcine 25-hydroxyvitamin D3 1alpha-hydroxylase and its regulation by cAMP in LLC-PK1 cells
-
Yoshida T., Yoshida N., Nakamura A., Monkawa T., Hayashi M., Saruta T. Cloning of porcine 25-hydroxyvitamin D3 1alpha-hydroxylase and its regulation by cAMP in LLC-PK1 cells. J Am Soc Nephrol. 10:1999;963-970.
-
(1999)
J Am Soc Nephrol
, vol.10
, pp. 963-970
-
-
Yoshida, T.1
Yoshida, N.2
Nakamura, A.3
Monkawa, T.4
Hayashi, M.5
Saruta, T.6
-
21
-
-
0021760092
-
A comprehensive set of sequence analysis programs for the VAX
-
Devereux J., Haeberli P., Smithies O. A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res. 12:1984;387-395.
-
(1984)
Nucleic Acids Res
, vol.12
, pp. 387-395
-
-
Devereux, J.1
Haeberli, P.2
Smithies, O.3
-
22
-
-
0031410426
-
Complete structure of the human gene for the vitamin D 1alpha- hydroxylase, P450c1alpha
-
Fu G.K., Portale A.A., Miller W.L. Complete structure of the human gene for the vitamin D 1alpha- hydroxylase, P450c1alpha. DNA Cell Biol. 16:1997;1499-1507.
-
(1997)
DNA Cell Biol
, vol.16
, pp. 1499-1507
-
-
Fu, G.K.1
Portale, A.A.2
Miller, W.L.3
-
24
-
-
0029781481
-
Structural alignments of P450s and extrapolations to the unknown
-
Graham-Lorence S.E., Peterson J.A. Structural alignments of P450s and extrapolations to the unknown. Methods Enzymol. 272:1996;315-326.
-
(1996)
Methods Enzymol
, vol.272
, pp. 315-326
-
-
Graham-Lorence, S.E.1
Peterson, J.A.2
-
25
-
-
0023377474
-
Vitamin D3 metabolism in a pig strain with pseudo vitamin D-deficiency rickets, type I
-
Kaune S., Harmeyer J. Vitamin D3 metabolism in a pig strain with pseudo vitamin D-deficiency rickets, type I. Acta Endocrino Copenh. 115:1987;52.
-
(1987)
Acta Endocrino Copenh
, vol.115
, pp. 52
-
-
Kaune, S.1
Harmeyer, J.2
-
26
-
-
0035342653
-
Overview of regulatory cytochrome P450 enzymes of the vitamin D pathway
-
Omdahl J.L., Bobrovnikova E.A., Choe S., Dwivedi P.P., May B.K. Overview of regulatory cytochrome P450 enzymes of the vitamin D pathway. Steroids. 66:2001;381-389.
-
(2001)
Steroids
, vol.66
, pp. 381-389
-
-
Omdahl, J.L.1
Bobrovnikova, E.A.2
Choe, S.3
Dwivedi, P.P.4
May, B.K.5
-
27
-
-
0032588038
-
Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages
-
Smith S.J., Rucka A.K., Berry J.L., Davies M., Mylchreest S., Paterson S.R., Heath D.A., Tassabehji M., Read A.P., Mee A.P., Mawer E.B. Novel mutations in the 1alpha-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. 14:1999;730-739.
-
(1999)
J Bone Miner Res
, vol.14
, pp. 730-739
-
-
Smith, S.J.1
Rucka, A.K.2
Berry, J.L.3
Davies, M.4
Mylchreest, S.5
Paterson, S.R.6
Heath, D.A.7
Tassabehji, M.8
Read, A.P.9
Mee, A.P.10
Mawer, E.B.11
-
28
-
-
0027054380
-
Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites
-
Stephens R.M., Schneider T.D. Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites. J Mol Biol. 228:1992;1124-1136.
-
(1992)
J Mol Biol
, vol.228
, pp. 1124-1136
-
-
Stephens, R.M.1
Schneider, T.D.2
-
29
-
-
0025181718
-
Alternative splicing in the human cytochrome P450IIB6 gene: Use of a cryptic exon within intron 3 and splice acceptor site within exon 4
-
Miles J.S., McLaren A.W., Gonzalez F.J., Wolf C.R. Alternative splicing in the human cytochrome P450IIB6 gene: use of a cryptic exon within intron 3 and splice acceptor site within exon 4. Nucleic Acids Res. 18:1990;189.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 189
-
-
Miles, J.S.1
McLaren, A.W.2
Gonzalez, F.J.3
Wolf, C.R.4
-
30
-
-
0031927268
-
Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency
-
Yamaguchi H., Nakazato M., Miyazato M., Toshimori H., Oki S., Shimizu K., Suiko M., Kangawa K., Matsukura S. Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency. Hum Genet. 102:1998;635-639.
-
(1998)
Hum Genet
, vol.102
, pp. 635-639
-
-
Yamaguchi, H.1
Nakazato, M.2
Miyazato, M.3
Toshimori, H.4
Oki, S.5
Shimizu, K.6
Suiko, M.7
Kangawa, K.8
Matsukura, S.9
-
31
-
-
0037155267
-
Intergenic mRNA molecules resulting from trans-splicing
-
Finta C., Zaphiropoulos P.G. Intergenic mRNA molecules resulting from trans-splicing. J Biol Chem. 277:2002;5882-5890.
-
(2002)
J Biol Chem
, vol.277
, pp. 5882-5890
-
-
Finta, C.1
Zaphiropoulos, P.G.2
-
32
-
-
0034896365
-
Amplification and expression of splice variants of the gene encoding the P450 cytochrome 25-hydroxyvitamin D(3) 1,alpha-hydroxylase (CYP 27B1) in human malignant glioma
-
Maas R.M., Reus K., Diesel B., Steudel W.I., Feiden W., Fischer U., Meese E. Amplification and expression of splice variants of the gene encoding the P450 cytochrome 25-hydroxyvitamin D(3) 1,alpha-hydroxylase (CYP 27B1) in human malignant glioma. Clin Cancer Res. 7:2001;868-875.
-
(2001)
Clin Cancer Res
, vol.7
, pp. 868-875
-
-
Maas, R.M.1
Reus, K.2
Diesel, B.3
Steudel, W.I.4
Feiden, W.5
Fischer, U.6
Meese, E.7
-
33
-
-
0042811783
-
Identification of a 25-hydroxyvitamin D-1-alpha-hyroxylase splcie variant in skin, prostate and colon
-
Flanagan J., Tanpricha T., Chen T., Holick M. Identification of a 25-hydroxyvitamin D-1-alpha-hyroxylase splcie variant in skin, prostate and colon. J Bone Miner Res. 16:(suppl 1):2001;S232.
-
(2001)
J Bone Miner Res
, vol.16
, Issue.SUPPL. 1
, pp. 232
-
-
Flanagan, J.1
Tanpricha, T.2
Chen, T.3
Holick, M.4
-
34
-
-
18244415878
-
Renal and hepatic 1 alpha-hydroxylation of 25-hydroxyvitamin D3 in piglets suffering from pseudo vitamin D-deficiency rickets, type I
-
Axen E., Harmeyer J., Wikvall K. Renal and hepatic 1 alpha-hydroxylation of 25-hydroxyvitamin D3 in piglets suffering from pseudo vitamin D-deficiency rickets, type I. Biochim Biophys Acta. 1407:1998;234-242.
-
(1998)
Biochim Biophys Acta
, vol.1407
, pp. 234-242
-
-
Axen, E.1
Harmeyer, J.2
Wikvall, K.3
-
35
-
-
0021891305
-
Purification from rabbit and rat liver of cytochromes P-450 involved in bile acid biosynthesis
-
Andersson S., Bostrom H., Danielsson H., Wikvall K. Purification from rabbit and rat liver of cytochromes P-450 involved in bile acid biosynthesis. Methods Enzymol. 111:1985;364-377.
-
(1985)
Methods Enzymol
, vol.111
, pp. 364-377
-
-
Andersson, S.1
Bostrom, H.2
Danielsson, H.3
Wikvall, K.4
-
36
-
-
0031195210
-
Expression, purification, and enzymatic properties of recombinant human cytochrome P450c27 (CYP27)
-
Pikuleva I.A., Bjorkhem I., Waterman M.R. Expression, purification, and enzymatic properties of recombinant human cytochrome P450c27 (CYP27). Arch Biochem Biophys. 343:1997;123-130.
-
(1997)
Arch Biochem Biophys
, vol.343
, pp. 123-130
-
-
Pikuleva, I.A.1
Bjorkhem, I.2
Waterman, M.R.3
-
37
-
-
0032511035
-
Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27- hydroxylase gene
-
Rosen H., Reshef A., Maeda N., Lippoldt A., Shpizen S., Triger L., Eggertsen G., Bjorkhem I., Leitersdorf E. Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27- hydroxylase gene. J Biol Chem. 273:1998;14805-14812.
-
(1998)
J Biol Chem
, vol.273
, pp. 14805-14812
-
-
Rosen, H.1
Reshef, A.2
Maeda, N.3
Lippoldt, A.4
Shpizen, S.5
Triger, L.6
Eggertsen, G.7
Bjorkhem, I.8
Leitersdorf, E.9
-
38
-
-
85047682668
-
Vitamin D 1alpha-hydroxylase knockout mice as a hereditary rickets animal model
-
Kato S. Vitamin D 1alpha-hydroxylase knockout mice as a hereditary rickets animal model. Endocrinology. 142:2001;2734-2735.
-
(2001)
Endocrinology
, vol.142
, pp. 2734-2735
-
-
Kato, S.1
-
39
-
-
0035912707
-
Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: Evidence for skeletal, reproductive, and immune dysfunction
-
Panda D.K., Miao D., Tremblay M.L., Sirois J., Farookhi R., Hendy G.N., Goltzman D. Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. Proc Natl Acad Sci USA. 98:2001;7498-7503.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 7498-7503
-
-
Panda, D.K.1
Miao, D.2
Tremblay, M.L.3
Sirois, J.4
Farookhi, R.5
Hendy, G.N.6
Goltzman, D.7
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