-
1
-
-
0029058163
-
Multisteroid analysis in children with terminal aldosterone biosynthesis defects
-
Peter M, Partsch CJ, Sippell WG 1995 Multisteroid analysis in children with terminal aldosterone biosynthesis defects. J Clin Endocrinol Metab 80:1622-1627
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1622-1627
-
-
Peter, M.1
Partsch, C.J.2
Sippell, W.G.3
-
2
-
-
0028608055
-
Corticosterone methyl oxidase type II (CMO II) deficiency: Biochemical approach to diagnosis
-
Yong AB, Montalto J, Pitt J, Oakes S, Preston T, Buchanan C 1994 Corticosterone methyl oxidase type II (CMO II) deficiency: biochemical approach to diagnosis. Clin Biochem 27:491-494
-
(1994)
Clin Biochem
, vol.27
, pp. 491-494
-
-
Yong, A.B.1
Montalto, J.2
Pitt, J.3
Oakes, S.4
Preston, T.5
Buchanan, C.6
-
3
-
-
0022657306
-
Biochemical diagnosis and management of corticosterone methyl oxidase type II deficiency
-
Lee PD, Patterson BD, Hintz RL, Rosenfeld RG 1986 Biochemical diagnosis and management of corticosterone methyl oxidase type II deficiency. J Clin Endocrinol Metab 62:225-229
-
(1986)
J Clin Endocrinol Metab
, vol.62
, pp. 225-229
-
-
Lee, P.D.1
Patterson, B.D.2
Hintz, R.L.3
Rosenfeld, R.G.4
-
4
-
-
0029935271
-
Correction of the nomenclature and mechanism of the aldosterone biosynthetic defects
-
Ulick S 1996 Correction of the nomenclature and mechanism of the aldosterone biosynthetic defects [Letter]. J Clin Endocrinol Metab 81:1299-1300
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1299-1300
-
-
Ulick, S.1
-
5
-
-
0031733923
-
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene
-
Portrat-Doyen S, Touniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow KM, Pascoe L, Morel Y 1998 Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J Clin Endocrinol Metab 83:4156-4161
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 4156-4161
-
-
Portrat-Doyen, S.1
Touniaire, J.2
Richard, O.3
Mulatero, P.4
Aupetit-Faisant, B.5
Curnow, K.M.6
Pascoe, L.7
Morel, Y.8
-
6
-
-
0025999564
-
The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex
-
Curnow KM, Tusie-Luna MT, Pascoe L, Natarajan R, Gu JL, Nadler JL, White PC 1991 The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol 5:1513-1522
-
(1991)
Mol Endocrinol
, vol.5
, pp. 1513-1522
-
-
Curnow, K.M.1
Tusie-Luna, M.T.2
Pascoe, L.3
Natarajan, R.4
Gu, J.L.5
Nadler, J.L.6
White, P.C.7
-
7
-
-
0026771282
-
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency
-
Pascoe L, Curnow KM, Slutsker L, Rosler A, White PC 1992 Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci USA 89:4996-5000
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4996-5000
-
-
Pascoe, L.1
Curnow, K.M.2
Slutsker, L.3
Rosler, A.4
White, P.C.5
-
8
-
-
0026701168
-
Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2
-
Pascoe L, Curnow KM, Slutsker L, Connell JM, Speiser PW, New MI, White PC 1992 Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. Proc Natl Acad Sci USA 89:8327-8331
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 8327-8331
-
-
Pascoe, L.1
Curnow, K.M.2
Slutsker, L.3
Connell, J.M.4
Speiser, P.W.5
New, M.I.6
White, P.C.7
-
9
-
-
85088804880
-
Improved growth in young children with severe chronic renal insufficiency who use specified nutritional therapy
-
Erratum: J Am Soc Nephrol 12:2418-26, 2002
-
Pareckh RS, Flynn JT, Smoyer WE, Milne JL, Kershaw DB, Bunchman TE, Sedman AB 2001 Improved growth in young children with severe chronic renal insufficiency who use specified nutritional therapy [Erratum: J Am Soc Nephrol 12:2418-26, 2002]. J Am Soc Nephrol 13:1421-1422
-
(2001)
J Am Soc Nephrol
, vol.13
, pp. 1421-1422
-
-
Pareckh, R.S.1
Flynn, J.T.2
Smoyer, W.E.3
Milne, J.L.4
Kershaw, D.B.5
Bunchman, T.E.6
Sedman, A.B.7
-
10
-
-
7144264412
-
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II
-
Peter M, Bunger K, Solyom J, Sippell WG 1998 Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. Eur J Pediatr 157:378-381
-
(1998)
Eur J Pediatr
, vol.157
, pp. 378-381
-
-
Peter, M.1
Bunger, K.2
Solyom, J.3
Sippell, W.G.4
-
11
-
-
0026097517
-
Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: Metabolic and gas chromatography-mass spectrometry studies
-
Hauffa BP, Solyom J, Glatz E, Shackleton CH, Wambach G, Vecsei P, Stolecke H, Homoki J 1991 Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. Eur J Pediatr 150:149-153
-
(1991)
Eur J Pediatr
, vol.150
, pp. 149-153
-
-
Hauffa, B.P.1
Solyom, J.2
Glatz, E.3
Shackleton, C.H.4
Wambach, G.5
Vecsei, P.6
Stolecke, H.7
Homoki, J.8
-
12
-
-
0031743976
-
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II
-
Peter M, Nikischin W, Heinz-Erian P, Fussenegger W, Kapelari K, Sippell WG 1998 Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II. Horm Res 50:222-225
-
(1998)
Horm Res
, vol.50
, pp. 222-225
-
-
Peter, M.1
Nikischin, W.2
Heinz-Erian, P.3
Fussenegger, W.4
Kapelari, K.5
Sippell, W.G.6
-
13
-
-
0028826191
-
Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency
-
Zhang G, Rodriguez H, Pardella CE, Harris DA, Miller WL 1995 Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency. Am J Hum Genet 57:1037-1043
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1037-1043
-
-
Zhang, G.1
Rodriguez, H.2
Pardella, C.E.3
Harris, D.A.4
Miller, W.L.5
-
14
-
-
0023630742
-
The production of monoclonal antibodies against aldosterone
-
Gomez-Sanchez CE, Foecking MF, Ferris MW, Ghavarri MR, Uribe L, Gomez-Sanchez EP 1987 The production of monoclonal antibodies against aldosterone. Steroids 49:581-587
-
(1987)
Steroids
, vol.49
, pp. 581-587
-
-
Gomez-Sanchez, C.E.1
Foecking, M.F.2
Ferris, M.W.3
Ghavarri, M.R.4
Uribe, L.5
Gomez-Sanchez, E.P.6
-
15
-
-
0023850709
-
Simultaneous transfection of COS-1 cells with mitochondrial and microsomal steroid hydroxylases: Incorporation of a steroidogenic pathway into nonsteroidogenic cells
-
Zuber MX, Mason I, Simpson ER, Waterman MR 1988 Simultaneous transfection of COS-1 cells with mitochondrial and microsomal steroid hydroxylases: incorporation of a steroidogenic pathway into nonsteroidogenic cells. Proc Natl Acad Sci USA 85:699-703
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 699-703
-
-
Zuber, M.X.1
Mason, I.2
Simpson, E.R.3
Waterman, M.R.4
-
16
-
-
0029934477
-
Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene
-
Skinner CA, Rumsby G, Honour JW 1996 Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab 81:2389-2393
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2389-2393
-
-
Skinner, C.A.1
Rumsby, G.2
Honour, J.W.3
-
17
-
-
0033305254
-
The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population
-
Loidi L, Quinteiro C, Dominguez F, Barreiro J, Pombo M 1999 The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population. J Clin Endocrinol Metab 84:4749
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4749
-
-
Loidi, L.1
Quinteiro, C.2
Dominguez, F.3
Barreiro, J.4
Pombo, M.5
-
18
-
-
0033305647
-
Single-strand conformation polymorphism analysis for the detection of mutations in the CYP11B1 gene
-
Rumsby G 1999 Single-strand conformation polymorphism analysis for the detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab 84:4749
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4749
-
-
Rumsby, G.1
-
19
-
-
0031025104
-
320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme
-
320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme [Letter]. Nat Struct Biol 4:32-35
-
(1997)
Nat Struct Biol
, vol.4
, pp. 32-35
-
-
Curnow, K.M.1
Mulatero, P.2
Emeric-Blanchouin, N.3
Aupetit-Faisant, B.4
Corvol, P.5
Pascoe, L.6
-
20
-
-
0032521610
-
Conferring aldosterone synthesis to human CYP11B1 by replacing key amino acid residues with CYP11B2-specific ones
-
Bottner, B, Denner K, Bernhardt R 1998 Conferring aldosterone synthesis to human CYP11B1 by replacing key amino acid residues with CYP11B2-specific ones. Eur J Biochem 252:458-466
-
(1998)
Eur J Biochem
, vol.252
, pp. 458-466
-
-
Bottner, B.1
Denner, K.2
Bernhardt, R.3
-
21
-
-
0033200309
-
How similar are P450s and what can their differences teach us?
-
Graham SE, Peterson JA 1999 How similar are P450s and what can their differences teach us? Arch Biochem Biophys 369:24-29
-
(1999)
Arch Biochem Biophys
, vol.369
, pp. 24-29
-
-
Graham, S.E.1
Peterson, J.A.2
-
22
-
-
0029781481
-
Structural alignments of P450s and extrapolations to the unknown
-
Graham-Lorence SE, Peterson JA 1996 Structural alignments of P450s and extrapolations to the unknown. Methods Enzymol 272:315-326
-
(1996)
Methods Enzymol
, vol.272
, pp. 315-326
-
-
Graham-Lorence, S.E.1
Peterson, J.A.2
-
23
-
-
0031709649
-
Molecular modelling of steroidogenic cytochromes P450 from families CYP11, CYP17, CYP19 and CYP21 based on the CYP102 crystal structure
-
Lewis DF, Lee-Robichaud P 1998 Molecular modelling of steroidogenic cytochromes P450 from families CYP11, CYP17, CYP19 and CYP21 based on the CYP102 crystal structure. J Steroid Biochem Moi Biol 66:217-233
-
(1998)
J Steroid Biochem Moi Biol
, vol.66
, pp. 217-233
-
-
Lewis, D.F.1
Lee-Robichaud, P.2
-
24
-
-
0027218610
-
Congenitally defective aldosterone biosynthesis in humans: Inactivation of the P450c18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients
-
Mitsuuchi T, et al. 1993 Congenitally defective aldosterone biosynthesis in humans: inactivation of the P450c18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 190:864-869
-
(1993)
Biochem Biophys Res Commun
, vol.190
, pp. 864-869
-
-
Mitsuuchi, T.1
-
25
-
-
0031279143
-
Hereditary defect in biosynthesis of aldosterone: Aldosterone synthase deficiency 1964-1997
-
Peter M, et al. 1997 Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. J Clin Endocrinol Metab 82:3525-3528
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3525-3528
-
-
Peter, M.1
-
26
-
-
14444268724
-
Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies
-
Peter M, et al. 1998 Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies. Eur J Endocrinol 139:96-100
-
(1998)
Eur J Endocrinol
, vol.139
, pp. 96-100
-
-
Peter, M.1
-
27
-
-
0028813929
-
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency
-
Geley S, et al. 1995 Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. J Clin Endocrinol Metab 80:424-429
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 424-429
-
-
Geley, S.1
-
28
-
-
0031578241
-
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18)
-
Nomoto S, et al. 1997 CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). Biochem Biophys Res Commun 234:382-385
-
(1997)
Biochem Biophys Res Commun
, vol.234
, pp. 382-385
-
-
Nomoto, S.1
-
29
-
-
0035290801
-
Type I aldosterone synthase deficiency presenting in a middle-aged man
-
Kayes-Wandover KM, et al. 2001 Type I aldosterone synthase deficiency presenting in a middle-aged man. J Clin Endocrinol Metab 86:1008-1012
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1008-1012
-
-
Kayes-Wandover, K.M.1
-
30
-
-
17344378441
-
Aldosterone synthase deficiency type I: Hormonal and genetic analyses of two cases
-
Lopez-Siguero JP, et al. 1999 Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases. Horm Res 52:298-300
-
(1999)
Horm Res
, vol.52
, pp. 298-300
-
-
Lopez-Siguero, J.P.1
-
31
-
-
0035156630
-
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene
-
Wasniewska M, et al. 2001 Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene. Eor J Endocrinol 144:59-62
-
(2001)
Eor J Endocrinol
, vol.144
, pp. 59-62
-
-
Wasniewska, M.1
-
32
-
-
0026543990
-
Congenitally defective aldosterone biosynthesis in humans: The involvement of point mutations of the P450C18 gene (CYP11B2) in CMO II deficient patients
-
published erratum appears in Biochem Biophys Res Commun 1992, 184(3):1529-30
-
Mitsuuchi Y, et al. 1992 Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P450C18 gene (CYP11B2) in CMO II deficient patients [published erratum appears in Biochem Biophys Res Commun 1992, 184(3):1529-30]. Biochem Biophys Res Commun 182:974-979
-
(1992)
Biochem Biophys Res Commun
, vol.182
, pp. 974-979
-
-
Mitsuuchi, Y.1
-
33
-
-
0030045134
-
Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency
-
Fardella CE, et al. 1996 Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency. J Clin Endocrinol Metab 81:321-326
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 321-326
-
-
Fardella, C.E.1
|