-
1
-
-
0025999564
-
The product of the CYP11B2 gene is required for aldosterone bio-synthesis in the human adrenal cortex
-
Curnow KM, Tusie-Luna MT, Pascoe L, Natarajan R, Gu JL, Nadler JL, White PC: The product of the CYP11B2 gene is required for aldosterone bio-synthesis in the human adrenal cortex. Mol Endocrinol 1991;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
-
2
-
-
2342574953
-
Aldosterone synthase deficiency and related disorders
-
White PC: Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol 2004;217:81-87.
-
(2004)
Mol Cell Endocrinol
, vol.217
, pp. 81-87
-
-
White, P.C.1
-
3
-
-
0035028517
-
Steroid 11 beta-hydroxylase deficiency and related disorders
-
White PC: Steroid 11 beta-hydroxylase deficiency and related disorders. Endocrinol Metab Clin North Am 2001;30:61-79.
-
(2001)
Endocrinol Metab Clin North Am
, vol.30
, pp. 61-79
-
-
White, P.C.1
-
4
-
-
0017329623
-
Nature of the defect in a salt-wasting disorder in Jews of Iran
-
Rosler A, Rabinowitz D, Theodor R, Ramirez LC, Ulick S: Nature of the defect in a salt-wasting disorder in Jews of Iran. J Clin Endocrinol Metab 1977;44:279-291.
-
(1977)
J Clin Endocrinol Metab
, vol.44
, pp. 279-291
-
-
Rosler, A.1
Rabinowitz, D.2
Theodor, R.3
Ramirez, L.C.4
Ulick, S.5
-
5
-
-
0021223924
-
The natural history of salt-wasting disorders of adrenal and renal origin
-
Rosler A: The natural history of salt-wasting disorders of adrenal and renal origin. J Clin Endocrinol Metab 1984;59:689-700.
-
(1984)
J Clin Endocrinol Metab
, vol.59
, pp. 689-700
-
-
Rosler, A.1
-
6
-
-
0026771282
-
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency
-
USA
-
Pascoe L, Curnow KM, Slutsker L, Rosler A, White PC: Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci USA 1992;89:4996-5000.
-
(1992)
Proc Natl Acad Sci
, vol.89
, pp. 4996-5000
-
-
Pascoe, L.1
Curnow, K.M.2
Slutsker, L.3
Rosler, A.4
White, P.C.5
-
7
-
-
14444268724
-
Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies
-
Peter M, Bunger K, Drop SL, Sippel WG: Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies. Eur J Endocrinol 1998;139:96-100.
-
(1998)
Eur J Endocrinol
, vol.139
, pp. 96-100
-
-
Peter, M.1
Bunger, K.2
Drop, S.L.3
Sippel, W.G.4
-
8
-
-
0019615526
-
Isolated aldosterone deficiency in man: Acquired and inborn errors in the biosynthesis or action of aldosterone
-
Veldhuis JD, Melby JC: Isolated aldosterone deficiency in man: acquired and inborn errors in the biosynthesis or action of aldosterone. Endocr Rev 1981;2:495-517.
-
(1981)
Endocr Rev
, vol.2
, pp. 495-517
-
-
Veldhuis, J.D.1
Melby, J.C.2
-
9
-
-
0038305859
-
A compound heterozygote case of type II aldosterone synthase deficiency
-
Dunlop FM, Crock PA, Montalto J, Funder JW, Curnow KM: A compound heterozygote case of type II aldosterone synthase deficiency. J Clin Endocrinol Metab 2003;88:2518-2526.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 2518-2526
-
-
Dunlop, F.M.1
Crock, P.A.2
Montalto, J.3
Funder, J.W.4
Curnow, K.M.5
-
10
-
-
0026543990
-
Congenitally defective aldosterone biosynthesis in humans: The involvement of point mutations of the P-450(C18) gene (CYP11B2) in CMO II deficient patients
-
Mitsuuchi Y, Kawamoto T, Rosler A, Naiki Y, Miyahara K, Toda K, Kuribayashi I, Orii T, Yasuda K, Miura K, Nakao K, Imura H, Ulick S, Shizuta Y: Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450(C18) gene (CYP11B2) in CMO II deficient patients. Biochem Biophys Res Commun 1992;182:974-979.
-
(1992)
Biochem Biophys Res Commun
, vol.182
, pp. 974-979
-
-
Mitsuuchi, Y.1
Kawamoto, T.2
Rosler, A.3
Naiki, Y.4
Miyahara, K.5
Toda, K.6
Kuribayashi, I.7
Orii, T.8
Yasuda, K.9
Miura, K.10
Nakao, K.11
Imura, H.12
Ulick, S.13
Shizuta, Y.14
-
11
-
-
0035185578
-
Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene
-
Kayes-Wandover KM, Tannin GM, Shulman D, Peled D Jones KL, Karaviti L, White PC: Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene. J Clin Endocrinol Metab 2001;86:5379-5382.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5379-5382
-
-
Kayes-Wandover, K.M.1
Tannin, G.M.2
Shulman, D.3
Peled, D.4
Jones, K.L.5
Karaviti, L.6
White, P.C.7
-
12
-
-
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, Hum DW, Rodriguez H, Zhang G, Barry FL, Ilicki A, Bloch CA, Miller WL: 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 1996;81:321-326.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 321-326
-
-
Fardella, C.E.1
Hum, D.W.2
Rodriguez, H.3
Zhang, G.4
Barry, F.L.5
Ilicki, A.6
Bloch, C.A.7
Miller, W.L.8
-
13
-
-
0017112177
-
Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway
-
Ulick S: Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. J Clin Endocrinol Metab 1976;43:92-96.
-
(1976)
J Clin Endocrinol Metab
, vol.43
, pp. 92-96
-
-
Ulick, S.1
-
14
-
-
0029935271
-
Correction of the nomenclature and mechanism of the aldosterone biosynthetic defects
-
Ulick S: Correction of the nomenclature and mechanism of the aldosterone biosynthetic defects. J Clin Endocrinol Metab 1996;81:1299.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1299
-
-
Ulick, S.1
-
15
-
-
0032696697
-
Disorders of the aldosterone synthase and steroid 11 beta-hydroxylase deficiencies
-
Peter M, Dubuis J-M, Sippel WG: Disorders of the aldosterone synthase and steroid 11 beta-hydroxylase deficiencies. Horm Res 1999;51:211-222.
-
(1999)
Horm Res
, vol.51
, pp. 211-222
-
-
Peter, M.1
Dubuis, J.-M.2
Sippel, W.G.3
-
16
-
-
0028826191
-
Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency
-
Zhang G, Rodriguez H, Fardella CE, Harris DA, Miller WL: Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency. Am J Hum Genet 1995;57:1037-1043.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1037-1043
-
-
Zhang, G.1
Rodriguez, H.2
Fardella, C.E.3
Harris, D.A.4
Miller, W.L.5
-
17
-
-
0031733923
-
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene
-
Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow KM, Pascoe L, Morel Y: Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J Clin Endocrinol Metab 1998;83:4156-4161.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 4156-4161
-
-
Portrat-Doyen, S.1
Tourniaire, J.2
Richard, O.3
Mulatero, P.4
Aupetit-Faisant, B.5
Curnow, K.M.6
Pascoe, L.7
Morel, Y.8
-
18
-
-
0015914917
-
Salt wasting, raised plasma-renin activity, and normal or high plasma-aldosterone: A form of pseudohypoaldosteronism
-
Rosler A, Theodor R, Gazir E, Biochis H, Rabinowitz D: Salt wasting, raised plasma-renin activity, and normal or high plasma-aldosterone: a form of pseudohypoaldosteronism. Lancet 1973;1:959-962.
-
(1973)
Lancet
, vol.1
, pp. 959-962
-
-
Rosler, A.1
Theodor, R.2
Gazir, E.3
Biochis, H.4
Rabinowitz, D.5
-
19
-
-
33746334213
-
Aldosterone synthase deficiency caused by simultaneous H69P and I339T mutations in the CYP11B2 gene
-
Krone N, Tiosano D, Riepe FG, Goetze D, Peter M, Partsch CJ, Hochberg Z, Sippell WG: Aldosterone synthase deficiency caused by simultaneous H69P and I339T mutations in the CYP11B2 gene. Abstract. Horm Res 2004;62(suppl 2):115.
-
(2004)
Horm Res
, vol.62
, Issue.2 SUPPL.
, pp. 115
-
-
Krone, N.1
Tiosano, D.2
Riepe, F.G.3
Goetze, D.4
Peter, M.5
Partsch, C.J.6
Hochberg, Z.7
Sippell, W.G.8
-
20
-
-
0842334477
-
The orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone production
-
Bassett MH, Suzuki T, Sasano H, White PC, Rainey WE: The orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone production. Mol Endocrinol 2004;18:279-290.
-
(2004)
Mol Endocrinol
, vol.18
, pp. 279-290
-
-
Bassett, M.H.1
Suzuki, T.2
Sasano, H.3
White, P.C.4
Rainey, W.E.5
|