-
1
-
-
0031046241
-
11beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess
-
White PC, Mune T, Agarwal AK. 11beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev. 1997;18(1):135-56.
-
(1997)
Endocr Rev
, vol.18
, Issue.1
, pp. 135-156
-
-
White, P.C.1
Mune, T.2
Agarwal, A.K.3
-
2
-
-
0033607164
-
Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess
-
New MI, Wilson RC. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA. 1999;96(22):12790-7.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, Issue.22
, pp. 12790-12797
-
-
New, M.I.1
Wilson, R.C.2
-
3
-
-
27744445759
-
Mendelian forms of human hypertension and mechanisms of disease
-
Luft FC. Mendelian forms of human hypertension and mechanisms of disease. Clin Med Res. 2003;1(4):291-300.
-
(2003)
Clin Med Res
, vol.1
, Issue.4
, pp. 291-300
-
-
Luft, F.C.1
-
4
-
-
0033602686
-
The 11beta-hydroxysteroid dehydrogenases: Functions and physiological effects
-
Krozowski Z. The 11beta-hydroxysteroid dehydrogenases: functions and physiological effects. Mol Cell Endocrinol 1999;151(1-2): 121-7.
-
(1999)
Mol Cell Endocrinol
, vol.151
, Issue.1-2
, pp. 121-127
-
-
Krozowski, Z.1
-
5
-
-
2542624590
-
Renal mineralocorticoid receptors and hippocampal corticosterone-binding species have identical intrinsic steroid specificity
-
Krozowski ZS, Funder JW. Renal mineralocorticoid receptors and hippocampal corticosterone-binding species have identical intrinsic steroid specificity. Proc Natl Acad Sci USA. 1983;80(19): 6056-60.
-
(1983)
Proc Natl Acad Sci USA
, vol.80
, Issue.19
, pp. 6056-6060
-
-
Krozowski, Z.S.1
Funder, J.W.2
-
6
-
-
0023761690
-
Localisation of 11b-hydroxysteroid dehydrogenase: Tissue specific protector of the mineralocorticoid receptor
-
Edwards C, Stewart P, Burt D, Brett L, Mclntyre M, Sutanto W, et al. Localisation of 11b-hydroxysteroid dehydrogenase: tissue specific protector of the mineralocorticoid receptor. Lancet. 1988;2(8618):986-9.
-
(1988)
Lancet
, vol.2
, Issue.8618
, pp. 986-989
-
-
Edwards, C.1
Stewart, P.2
Burt, D.3
Brett, L.4
Mclntyre, M.5
Sutanto, W.6
-
7
-
-
0028324104
-
Isozymes of 11 beta-hydroxysteroid dehydrogenase: Which enzyme endows mineralocorticoid specificity?
-
Krozowski ZS, Provencher PH, Smith RE, Obeyesekere VR, Mercer WR, Albiston AL. Isozymes of 11 beta-hydroxysteroid dehydrogenase: which enzyme endows mineralocorticoid specificity? Steroids. 1994;59(2):116-20.
-
(1994)
Steroids
, vol.59
, Issue.2
, pp. 116-120
-
-
Krozowski, Z.S.1
Provencher, P.H.2
Smith, R.E.3
Obeyesekere, V.R.4
Mercer, W.R.5
Albiston, A.L.6
-
8
-
-
0027165109
-
Structure and function of the hepatic form of 11b-hydroxysteroid dehydrogenase in the squirrel monkey, an animal model of glucocorticoid resistance
-
Moore CC, Mellon SH, Murai J, Siiteri PK, Miller WL Structure and function of the hepatic form of 11b-hydroxysteroid dehydrogenase in the squirrel monkey, an animal model of glucocorticoid resistance. Endocrinology. 1993;133(1): 368-75.
-
(1993)
Endocrinology
, vol.133
, Issue.1
, pp. 368-375
-
-
Moore, C.C.1
Mellon, S.H.2
Murai, J.3
Siiteri, P.K.4
Miller, W.L.5
-
9
-
-
0028169395
-
Human kidney 11β-hydroxysteroid dehydrogenase is a high affinity nicotinamide adenine dinucleotide-dependent enzyme and differs from the cloned type I isoform
-
Stewart PM, Murry BA, Mason Jl. Human kidney 11β-hydroxysteroid dehydrogenase is a high affinity nicotinamide adenine dinucleotide-dependent enzyme and differs from the cloned type I isoform. J Clin Endocrinol Metab. 1994;79(2):480-4.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, Issue.2
, pp. 480-484
-
-
Stewart, P.M.1
Murry, B.A.2
Mason, J.3
-
10
-
-
0027162955
-
A new isoform of 11b-hydroxysteroid dehydrogenase in aldosterone target cells
-
Rusvai E, Naray-Fejes-Toth A. A new isoform of 11b-hydroxysteroid dehydrogenase in aldosterone target cells. J Biol Chem. 1993;268(15):10717-20.
-
(1993)
J Biol Chem
, vol.268
, Issue.15
, pp. 10717-10720
-
-
Rusvai, E.1
Naray-Fejes-Toth, A.2
-
11
-
-
0029095113
-
-
Agarwal AK, Rogerson FM, Mune T, White PC. Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase. Genomics. 1995;29f1): 195-9.
-
Agarwal AK, Rogerson FM, Mune T, White PC. Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase. Genomics. 1995;29f1): 195-9.
-
-
-
-
12
-
-
0029160972
-
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase
-
Mune T, Rogerson FM, Nikkilä H, Agarwal AK, White PC. Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat Genet. 1995;10(4):394-9.
-
(1995)
Nat Genet
, vol.10
, Issue.4
, pp. 394-399
-
-
Mune, T.1
Rogerson, F.M.2
Nikkilä, H.3
Agarwal, A.K.4
White, P.C.5
-
13
-
-
0032231654
-
Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess
-
Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, et al. Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess. Am J Hum Genet. 1998;63(2):370-9.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.2
, pp. 370-379
-
-
Li, A.1
Tedde, R.2
Krozowski, Z.S.3
Pala, A.4
Li, K.X.5
Shackleton, C.H.6
-
14
-
-
15944380106
-
Monogenic low renin hypertension
-
New Ml, Geller DS, Fallo F, Wilson RC. Monogenic low renin hypertension. Trends Endocrinol Metab. 2005;16(3):92-7.
-
(2005)
Trends Endocrinol Metab
, vol.16
, Issue.3
, pp. 92-97
-
-
New, M.1
Geller, D.S.2
Fallo, F.3
Wilson, R.C.4
-
15
-
-
0030049329
-
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene
-
Stewart PM, Krozowski ZS, Gupta A, Milford DV, Howie AJ, Sheppard MC, Whorwood CB. Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. Lancet. 1996;347(8994):88-91.
-
(1996)
Lancet
, vol.347
, Issue.8994
, pp. 88-91
-
-
Stewart, P.M.1
Krozowski, Z.S.2
Gupta, A.3
Milford, D.V.4
Howie, A.J.5
Sheppard, M.C.6
Whorwood, C.B.7
-
16
-
-
7844240856
-
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess
-
Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, et al. Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrin Metab. 1998;83(7):2244-54.
-
(1998)
J Clin Endocrin Metab
, vol.83
, Issue.7
, pp. 2244-2254
-
-
Dave-Sharma, S.1
Wilson, R.C.2
Harbison, M.D.3
Newfield, R.4
Azar, M.R.5
Krozowski, Z.S.6
-
17
-
-
0033305688
-
Prevalence of mild apparent mineralocorticoid excess in Mennonites
-
Ugrasbul F, Wiens T, Rubinstein P, New Ml, Wilson RC. Prevalence of mild apparent mineralocorticoid excess in Mennonites. J Clin Endocrinol Metab. 1999;84(12):4735-8.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, Issue.12
, pp. 4735-4738
-
-
Ugrasbul, F.1
Wiens, T.2
Rubinstein, P.3
New, M.4
Wilson, R.C.5
-
18
-
-
13144265720
-
A genetic defect resulting in mild low-renin hypertension
-
Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, et al. A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci USA. 1998;95(17):10200-5.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, Issue.17
, pp. 10200-10205
-
-
Wilson, R.C.1
Dave-Sharma, S.2
Wei, J.Q.3
Obeyesekere, V.R.4
Li, K.5
Ferrari, P.6
-
19
-
-
0042767044
-
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene
-
Lavery GG, Ronconi V, Draper N, Rabbitt EH, Lyons V, Chapman KE, et al. Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. Hypertension. 2003;42(2): 123-9.
-
(2003)
Hypertension
, vol.42
, Issue.2
, pp. 123-129
-
-
Lavery, G.G.1
Ronconi, V.2
Draper, N.3
Rabbitt, E.H.4
Lyons, V.5
Chapman, K.E.6
-
20
-
-
44849128640
-
Two elderly patients with mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) impairment
-
Inada M, Iwasaki K, Imai C, Hashimoto S. Two elderly patients with mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) impairment. Intern Med. 2008;47(7):631-6.
-
(2008)
Intern Med
, vol.47
, Issue.7
, pp. 631-636
-
-
Inada, M.1
Iwasaki, K.2
Imai, C.3
Hashimoto, S.4
-
21
-
-
0033211082
-
Mutants of 11 beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: Improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess
-
Nunez BS, Rogerson FM, Mune T, Igarashi Y, Nakagawa Y, Phillipov G, et al. Mutants of 11 beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. Hypertension. 1999;34(4 Pt 1):638-42.
-
(1999)
Hypertension
, vol.34
, Issue.4 PART 1
, pp. 638-642
-
-
Nunez, B.S.1
Rogerson, F.M.2
Mune, T.3
Igarashi, Y.4
Nakagawa, Y.5
Phillipov, G.6
-
22
-
-
0004136246
-
-
Cold Spring Harbor Press, Cold Spring Harbor, NY, USA
-
Sambrook J, Fristsch EF, Maniatis TE. In: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Press, Cold Spring Harbor, NY, USA. 1989.
-
(1989)
Molecular Cloning: A Laboratory Manual
-
-
Sambrook, J.1
Fristsch, E.F.2
Maniatis, T.E.3
-
23
-
-
0028785017
-
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess
-
Wilson RC, Harbison MD, Krozowski ZS, Funder JW, Shackleton CH, Hanauske-Abel HM, et al. Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995;80(11):3145-50.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, Issue.11
, pp. 3145-3150
-
-
Wilson, R.C.1
Harbison, M.D.2
Krozowski, Z.S.3
Funder, J.W.4
Shackleton, C.H.5
Hanauske-Abel, H.M.6
-
24
-
-
0029954797
-
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess
-
Ferrari P, Obeyesekere VR, Li K, Wilson RC, New Ml, Funder JW, Krozowski ZS. Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. Mol Cell Endocrinol. 1996;119(1):21-4.
-
(1996)
Mol Cell Endocrinol
, vol.119
, Issue.1
, pp. 21-24
-
-
Ferrari, P.1
Obeyesekere, V.R.2
Li, K.3
Wilson, R.C.4
New, M.5
Funder, J.W.6
Krozowski, Z.S.7
-
26
-
-
20244385677
-
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population
-
Quinkler M, Bappal B, Draper N, Atterbury AJ, Lavery GG, Walker EA, et al. Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. Mol Cell Endocrinol. 2004;217(1-2):143-9.
-
(2004)
Mol Cell Endocrinol
, vol.217
, Issue.1-2
, pp. 143-149
-
-
Quinkler, M.1
Bappal, B.2
Draper, N.3
Atterbury, A.J.4
Lavery, G.G.5
Walker, E.A.6
-
27
-
-
33744948083
-
Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations
-
Kamide K, Kokubo Y, Hanada H, Nagura J, Yang J, Takiuchi S, et al. Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations. Hypertens Res. 2006;29(4):243-52.
-
(2006)
Hypertens Res
, vol.29
, Issue.4
, pp. 243-252
-
-
Kamide, K.1
Kokubo, Y.2
Hanada, H.3
Nagura, J.4
Yang, J.5
Takiuchi, S.6
-
28
-
-
33750697604
-
Apparent mineralocorticoid excess: Report of six new cases and extensive personal experience
-
Morineau G, Sulmont V, Salomon R, Fiquet-Kempf B, Jeunamaitre X, Nicod J, Ferrari P. Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. J Am Soc Nephrol. 2006;17(11):3176-84.
-
(2006)
J Am Soc Nephrol
, vol.17
, Issue.11
, pp. 3176-3184
-
-
Morineau, G.1
Sulmont, V.2
Salomon, R.3
Fiquet-Kempf, B.4
Jeunamaitre, X.5
Nicod, J.6
Ferrari, P.7
-
29
-
-
0037422553
-
Color and genomic ancestry in Brazilians
-
Parra FC, Amado RC, Lambertucci JR, Rocha J, Antunes CM, Pena SD. Color and genomic ancestry in Brazilians. Proc Natl Acad Sci USA. 2003;100(1): 177-82.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, Issue.1
, pp. 177-182
-
-
Parra, F.C.1
Amado, R.C.2
Lambertucci, J.R.3
Rocha, J.4
Antunes, C.M.5
Pena, S.D.6
-
30
-
-
0030569351
-
Sequence specificity in CpG mutation hotspots
-
Ollila J, Lappalainen I, Vihinen M. Sequence specificity in CpG mutation hotspots. FEBS Lett. 1996;396(2-3):119-22.
-
(1996)
FEBS Lett
, vol.396
, Issue.2-3
, pp. 119-122
-
-
Ollila, J.1
Lappalainen, I.2
Vihinen, M.3
-
31
-
-
0027271809
-
Structural deviations at CpG provide a plausible explanation for the high frequency of mutation at this site. Phosphorus nuclear magnetic resonance and circular dichroism studies
-
el Antri S, Mauffret O, Monnot M, Lescot E, Convert O, Fermandjian S. Structural deviations at CpG provide a plausible explanation for the high frequency of mutation at this site. Phosphorus nuclear magnetic resonance and circular dichroism studies. J Mol Biol. 1993;230(2):373-8.
-
(1993)
J Mol Biol
, vol.230
, Issue.2
, pp. 373-378
-
-
el Antri, S.1
Mauffret, O.2
Monnot, M.3
Lescot, E.4
Convert, O.5
Fermandjian, S.6
-
32
-
-
0032238113
-
The codon 213 of the 11 beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess
-
Rogoff D, Smolenicka Z, Bergadá I, Vallejo G, Barontini M, Heinrich JJ, Ferrari P. The codon 213 of the 11 beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998;83(12):4391-3.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, Issue.12
, pp. 4391-4393
-
-
Rogoff, D.1
Smolenicka, Z.2
Bergadá, I.3
Vallejo, G.4
Barontini, M.5
Heinrich, J.J.6
Ferrari, P.7
-
33
-
-
6844237653
-
Apparent mineralocorticoid excess in a Brazilian kindred: Hypertension in the heterozygote state
-
Li A, Li KX, Marui S, Krozowski ZS, Batista MC, Whorwood CB, et al. Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. J Hypertens. 1997;15(12 Pt 1):1397-402.
-
(1997)
J Hypertens
, vol.15
, Issue.12 PART 1
, pp. 1397-1402
-
-
Li, A.1
Li, K.X.2
Marui, S.3
Krozowski, Z.S.4
Batista, M.C.5
Whorwood, C.B.6
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