-
1
-
-
0022374725
-
Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases: A new variant of congenital adrenal hyperplasia
-
Peterson RE, Imperato-McGinley J, Gautier T, Shackleton C. Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases: a new variant of congenital adrenal hyperplasia. N Engl J Med. 313:1985;1182-1191
-
(1985)
N Engl J Med
, vol.313
, pp. 1182-1191
-
-
Peterson, R.E.1
Imperato-Mcginley, J.2
Gautier, T.3
Shackleton, C.4
-
2
-
-
0034059969
-
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
-
Reardon W, Smith A, Honour JW, et al. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? J Med Genet. 37:2000;26-32
-
(2000)
J Med Genet
, vol.37
, pp. 26-32
-
-
Reardon, W.1
Smith, A.2
Honour, J.W.3
-
3
-
-
0242456084
-
Apparent pregnene hydroxylation deficiency (APHD): Seeking the parentage of an orphan metabolome
-
Shackleton C, Malunowicz E. Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome. Steroids. 68:2003;707-717
-
(2003)
Steroids
, vol.68
, pp. 707-717
-
-
Shackleton, C.1
Malunowicz, E.2
-
4
-
-
0032996258
-
A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17α-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations
-
Adachi M, Tachibana K, Asakura Y, Suwa S, Nishimura G. A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17α-hydroxylase/17, 20-lyase deficiency, but without obvious CYP17 gene mutations. Endocr J. 46:1999;285-292
-
(1999)
Endocr J
, vol.46
, pp. 285-292
-
-
Adachi, M.1
Tachibana, K.2
Asakura, Y.3
Suwa, S.4
Nishimura, G.5
-
5
-
-
0022590907
-
Congenital adrenal hyperplasia
-
Miller WL. Congenital adrenal hyperplasia. N Engl J Med. 314:1986;1321-1322
-
(1986)
N Engl J Med
, vol.314
, pp. 1321-1322
-
-
Miller, W.L.1
-
6
-
-
3042535976
-
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis
-
(published online April 5,). DOI: 10.1002/ajmg.a.30104.
-
Shackleton C, Marcos J, Malunowicz EM, et al. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet (published online April 5, 2004). DOI: 10.1002/ajmg.a.30104.
-
(2004)
Am J Med Genet
-
-
Shackleton, C.1
Marcos, J.2
Malunowicz, E.M.3
-
7
-
-
0027414682
-
Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research
-
Shackleton CH. Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol. 45:1993;127-140
-
(1993)
J Steroid Biochem Mol Biol
, vol.45
, pp. 127-140
-
-
Shackleton, C.H.1
-
8
-
-
0036345166
-
The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens
-
Caulfield MP, Lynn T, Gottschalk ME, et al. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. J Clin Endocrinol Metab. 87:2002;3682-3690
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 3682-3690
-
-
Caulfield, M.P.1
Lynn, T.2
Gottschalk, M.E.3
-
9
-
-
0032861688
-
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
-
Asanuma A, Ohura T, Ogawa E, et al. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency. J Hum Genet. 44:1999;312-317
-
(1999)
J Hum Genet
, vol.44
, pp. 312-317
-
-
Asanuma, A.1
Ohura, T.2
Ogawa, E.3
-
10
-
-
0025925362
-
Missense mutation serine106→proline causes 17α-hydroxylase deficiency
-
Lin D, Harikrishna JA, Moore CC, Jones KL, Miller WL. Missense mutation serine106→proline causes 17α-hydroxylase deficiency. J Biol Chem. 266:1991;15992-15998
-
(1991)
J Biol Chem
, vol.266
, pp. 15992-15998
-
-
Lin, D.1
Harikrishna, J.A.2
Moore, C.C.3
Jones, K.L.4
Miller, W.L.5
-
11
-
-
0030030695
-
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency
-
Witchel SS, Lee PA, Trucco M. Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency. Am J Med Genet. 61:1996;2-9
-
(1996)
Am J Med Genet
, vol.61
, pp. 2-9
-
-
Witchel, S.S.1
Lee, P.A.2
Trucco, M.3
-
12
-
-
0032488666
-
Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer
-
Auchus RJ, Lee TC, Miller WL. Cytochrome b5 augments the 17, 20-lyase activity of human P450c17 without direct electron transfer. J Biol Chem. 273:1998;3158-3165
-
(1998)
J Biol Chem
, vol.273
, pp. 3158-3165
-
-
Auchus, R.J.1
Lee, T.C.2
Miller, W.L.3
-
13
-
-
0035877598
-
Functional expression, characterization, and purification of the catalytic domain of human 11β-hydroxysteroid dehydrogenase type 1
-
Walker EA, Clark AM, Hewison M, Ride JP, Stewart PM. Functional expression, characterization, and purification of the catalytic domain of human 11β-hydroxysteroid dehydrogenase type 1. J Biol Chem. 276:2001;21343-21350
-
(2001)
J Biol Chem
, vol.276
, pp. 21343-21350
-
-
Walker, E.A.1
Clark, A.M.2
Hewison, M.3
Ride, J.P.4
Stewart, P.M.5
-
14
-
-
0028106174
-
Dissection of NADPH-cytochrome P450 oxidoreductase into distinct functional domains
-
Smith GC, Tew DG, Wolf CR. Dissection of NADPH-cytochrome P450 oxidoreductase into distinct functional domains. Proc Natl Acad Sci USA. 91:1994;8710-8714
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8710-8714
-
-
Smith, G.C.1
Tew, D.G.2
Wolf, C.R.3
-
15
-
-
0024518203
-
Structural analysis of the FMN binding domain of NADPH-cytochrome P-450 oxidoreductase by site-directed mutagenesis
-
Shen AL, Porter TD, Wilson TE, Kasper CB. Structural analysis of the FMN binding domain of NADPH-cytochrome P-450 oxidoreductase by site-directed mutagenesis. J Biol Chem. 264:1989;7584-7589
-
(1989)
J Biol Chem
, vol.264
, pp. 7584-7589
-
-
Shen, A.L.1
Porter, T.D.2
Wilson, T.E.3
Kasper, C.B.4
-
16
-
-
0034810416
-
Activities and kinetic mechanisms of native and soluble NADPH-cytochrome P450 reductase
-
Lamb DC, Warrilow AG, Venkateswarlu K, Kelly DE, Kelly SL. Activities and kinetic mechanisms of native and soluble NADPH-cytochrome P450 reductase. Biochem Biophys Res Commun. 286:2001;48-54
-
(2001)
Biochem Biophys Res Commun
, vol.286
, pp. 48-54
-
-
Lamb, D.C.1
Warrilow, A.G.2
Venkateswarlu, K.3
Kelly, D.E.4
Kelly, S.L.5
-
17
-
-
0030873316
-
Three-dimensional structure of NADPH-cytochrome P450 reductase: Prototype for FMN- and FAD-containing enzymes
-
Wang M, Roberts DL, Paschke R, Shea TM, Masters BS, Kim JJ. Three-dimensional structure of NADPH-cytochrome P450 reductase: prototype for FMN- and FAD-containing enzymes. Proc Natl Acad Sci USA. 94:1997;8411-8416
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 8411-8416
-
-
Wang, M.1
Roberts, D.L.2
Paschke, R.3
Shea, T.M.4
Masters, B.S.5
Kim, J.J.6
-
18
-
-
0034731525
-
Differential contributions of NADPH-cytochrome P450 oxidoreductase FAD binding site residues to flavin binding and catalysis
-
Shen AL, Kasper CB. Differential contributions of NADPH-cytochrome P450 oxidoreductase FAD binding site residues to flavin binding and catalysis. J Biol Chem. 275:2000;41087-41091
-
(2000)
J Biol Chem
, vol.275
, pp. 41087-41091
-
-
Shen, A.L.1
Kasper, C.B.2
-
19
-
-
0037317265
-
5α-androstane-3α,17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-pregnane-3α,17α- diol-20-one as a key intermediate
-
Wilson JD, Auchus RJ, Leihy MW, et al. 5α-androstane-3α, 17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-pregnane-3α, 17α-diol-20-one as a key intermediate. Endocrinology. 144:2003;575-580
-
(2003)
Endocrinology
, vol.144
, pp. 575-580
-
-
Wilson, J.D.1
Auchus, R.J.2
Leihy, M.W.3
-
20
-
-
0141651675
-
5alpha-reduced C21 steroids are substrates for human cytochrome P450c17
-
Gupta MK, Guryev OL, Auchus RJ. 5alpha-reduced C21 steroids are substrates for human cytochrome P450c17. Arch Biochem Biophys. 418:2003;151-160
-
(2003)
Arch Biochem Biophys
, vol.418
, pp. 151-160
-
-
Gupta, M.K.1
Guryev, O.L.2
Auchus, R.J.3
-
21
-
-
0028298216
-
A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom)
-
Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab. 78:1994;1287-1292
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 1287-1292
-
-
Conte, F.A.1
Grumbach, M.M.2
Ito, Y.3
Fisher, C.R.4
Simpson, E.R.5
-
22
-
-
0030797569
-
Effect of testosterone and estradiol in a man with aromatase deficiency
-
Carani C, Qin K, Simoni M, et al. Effect of testosterone and estradiol in a man with aromatase deficiency. N Engl J Med. 337:1997;91-95
-
(1997)
N Engl J Med
, vol.337
, pp. 91-95
-
-
Carani, C.1
Qin, K.2
Simoni, M.3
-
23
-
-
0036925191
-
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene
-
Herrmann BL, Saller B, Janssen OE, et al. Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene. J Clin Endocrinol Metab. 87:2002;5476-5484
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 5476-5484
-
-
Herrmann, B.L.1
Saller, B.2
Janssen, O.E.3
-
24
-
-
0034053529
-
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma
-
Roth C, Hinney B, Peter M, Steinberger D, Lakomek M. Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. Eur J Pediatr. 159:2000;189-192
-
(2000)
Eur J Pediatr
, vol.159
, pp. 189-192
-
-
Roth, C.1
Hinney, B.2
Peter, M.3
Steinberger, D.4
Lakomek, M.5
-
25
-
-
0037097340
-
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia
-
Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 110:2002;95-102
-
(2002)
Am J Med Genet
, vol.110
, pp. 95-102
-
-
Kelley, R.I.1
Kratz, L.E.2
Glaser, R.L.3
Netzloff, M.L.4
Wolf, L.M.5
Jabs, E.W.6
-
26
-
-
0027981524
-
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
-
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 8:1994;98-103
-
(1994)
Nat Genet
, vol.8
, pp. 98-103
-
-
Reardon, W.1
Winter, R.M.2
Rutland, P.3
Pulleyn, L.J.4
Jones, B.M.5
Malcolm, S.6
-
27
-
-
0032543288
-
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
-
Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet. 77:1998;219-224
-
(1998)
Am J Med Genet
, vol.77
, pp. 219-224
-
-
Chun, K.1
Siegel-Bartelt, J.2
Chitayat, D.3
Phillips, J.4
Ray, P.N.5
-
28
-
-
0034970491
-
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome
-
Tsai FJ, Wu JY, Yang CF, Tsai CH. Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. Acta Paediatr. 90:2001;595-597
-
(2001)
Acta Paediatr
, vol.90
, pp. 595-597
-
-
Tsai, F.J.1
Wu, J.Y.2
Yang, C.F.3
Tsai, C.H.4
-
29
-
-
10744224515
-
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
-
Fluck CE, Tajima T, Pandey AV, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 36:2004;228-230
-
(2004)
Nat Genet
, vol.36
, pp. 228-230
-
-
Fluck, C.E.1
Tajima, T.2
Pandey, A.V.3
-
30
-
-
0037155271
-
Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase
-
Shen AL, O'Leary KA, Kasper CB. Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase. J Biol Chem. 277:2002;6536-6541
-
(2002)
J Biol Chem
, vol.277
, pp. 6536-6541
-
-
Shen, A.L.1
O'Leary, K.A.2
Kasper, C.B.3
-
31
-
-
0041468898
-
Identification of novel roles of the cytochrome p450 system in early embryogenesis: Effects on vasculogenesis and retinoic Acid homeostasis
-
Otto DM, Henderson CJ, Carrie D, et al. Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis. Mol Cell Biol. 23:2003;6103-6116
-
(2003)
Mol Cell Biol
, vol.23
, pp. 6103-6116
-
-
Otto, D.M.1
Henderson, C.J.2
Carrie, D.3
-
32
-
-
0031252385
-
The genetic and functional basis of isolated 17,20-lyase deficiency
-
Geller DH, Auchus RJ, Mendonca BB, Miller WL. The genetic and functional basis of isolated 17, 20-lyase deficiency. Nat Genet. 17:1997;201-205
-
(1997)
Nat Genet
, vol.17
, pp. 201-205
-
-
Geller, D.H.1
Auchus, R.J.2
Mendonca, B.B.3
Miller, W.L.4
-
33
-
-
0042667127
-
Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency
-
Draper N, Walker EA, Bujalska IJ, et al. Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet. 34:2003;434-439
-
(2003)
Nat Genet
, vol.34
, pp. 434-439
-
-
Draper, N.1
Walker, E.A.2
Bujalska, I.J.3
|