-
1
-
-
0001182641
-
A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion
-
Liddle GW, Bledsoe T, Coppage WS: A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physicians 1963, 76:199-213.
-
(1963)
Trans Am Assoc Physicians
, vol.76
, pp. 199-213
-
-
Liddle, G.W.1
Bledsoe, T.2
Coppage, W.S.3
-
3
-
-
0031594450
-
Liddle syndrome: An autosomal dominant form of human hypertension
-
Warnock DG: Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Intern 1998, 53:18-24. Detailed description of the clinical presentation and pathophysiologic basis for pseudoaldosteronism.
-
(1998)
Kidney Intern
, vol.53
, pp. 18-24
-
-
Warnock, D.G.1
-
4
-
-
0031157578
-
Cum grano salis: The epithelial sodium channel and the control of blood pressure
-
Rossier BC: Cum grano salis: the epithelial sodium channel and the control of blood pressure. J Amer Soc Nephrol 1997, 8:980-992. Homer Smith Lecture describing the expression cloning of ENaC and the genetic disorders of its regulation.
-
(1997)
J Amer Soc Nephrol
, vol.8
, pp. 980-992
-
-
Rossier, B.C.1
-
5
-
-
0027946089
-
Liddle's syndrome: Heritable human hypertension caused by mutations in the b subunit of the epithelial sodium channel
-
Shimkets RA, Warnock DG, Bositis CM, et al.: Liddle's syndrome: heritable human hypertension caused by mutations in the b subunit of the epithelial sodium channel. Cell 1994, 79:407-414.
-
(1994)
Cell
, vol.79
, pp. 407-414
-
-
Shimkets, R.A.1
Warnock, D.G.2
Bositis, C.M.3
-
6
-
-
0029948974
-
Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle's syndrome
-
Schild L, Lu Y, Gautschi I, et al.: Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle's syndrome. EMBO J 1996, 15:2381-2387.
-
(1996)
EMBO J
, vol.15
, pp. 2381-2387
-
-
Schild, L.1
Lu, Y.2
Gautschi, I.3
-
7
-
-
0029874436
-
WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome
-
Staub O, Dho S, Henry PC, et al.: WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome. EMBO J 1996, 15:2371-2380.
-
(1996)
EMBO J
, vol.15
, pp. 2371-2380
-
-
Staub, O.1
Dho, S.2
Henry, P.C.3
-
8
-
-
0030731428
-
Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination
-
Staub O, Gautschi I, Ishikawa T, et al.: Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination. EMBO J 1997, 16:6325-6336. Cell biologic description of one pathway by which the expression of ENaC is controlled at the plasma membrane level.
-
(1997)
EMBO J
, vol.16
, pp. 6325-6336
-
-
Staub, O.1
Gautschi, I.2
Ishikawa, T.3
-
9
-
-
0029591506
-
Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel
-
Snyder PM, Price M, McDonald FJ, et al.: Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. Cell 1995, 83:969-978.
-
(1995)
Cell
, vol.83
, pp. 969-978
-
-
Snyder, P.M.1
Price, M.2
McDonald, F.J.3
-
10
-
-
0030451774
-
Cell surface expression of the epithelial Na channel and a mutatant causing Liddle syndrome: A quantitative approach
-
Firsov D, Schild L, Gautschi I, et al.: Cell surface expression of the epithelial Na channel and a mutatant causing Liddle syndrome: a quantitative approach. Proc Natl Acad Sci USA 1996, 93:15370-15375.
-
(1996)
Proc Natl Acad Sci u S A
, vol.93
, pp. 15370-15375
-
-
Firsov, D.1
Schild, L.2
Gautschi, I.3
-
11
-
-
0030820814
-
The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis
-
Shimkets RA, Lifton RP, Canessa CM: The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis. J Biol Chem 1997, 272:25537-25541.
-
(1997)
J Biol Chem
, vol.272
, pp. 25537-25541
-
-
Shimkets, R.A.1
Lifton, R.P.2
Canessa, C.M.3
-
12
-
-
0027414682
-
Mass spectrometry in the diagnosis of steroidrelated disorders and in hypertension research
-
Shackleton CH: Mass spectrometry in the diagnosis of steroidrelated disorders and in hypertension research. J Steroid Biochem Molec Biol 1993, 45:127-140.
-
(1993)
J Steroid Biochem Molec Biol
, vol.45
, pp. 127-140
-
-
Shackleton, C.H.1
-
13
-
-
0030405694
-
Novel variant of the ßsubunit of the amiloride-sensitive sodium channel in African Americans
-
Su YR, Rutkowski MP, Klanke CA, et al.: novel variant of the ßsubunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol 1996, 7:2543-2549.
-
(1996)
J Am Soc Nephrol
, vol.7
, pp. 2543-2549
-
-
Su, Y.R.1
Rutkowski, M.P.2
Klanke, C.A.3
-
14
-
-
0032499488
-
Association of hypertension with T594M mutation in the b subunit of epithelial sodium channels in black people resident in London
-
Baker EH, Dong YB, Sagnella GA, et al.: Association of hypertension with T594M mutation in the b subunit of epithelial sodium channels in black people resident in London. Lancet 1998, 351:1388-1392. Provocative report of polymorphisms in the ENaC beta subunit, and a genetic association to hypertension in blacks.
-
(1998)
Lancet
, vol.351
, pp. 1388-1392
-
-
Baker, E.H.1
Dong, Y.B.2
Sagnella, G.A.3
-
15
-
-
13344295074
-
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
-
Chang SS, Grunder S, Hanukoglu A, et al.: Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996, 12:248-253.
-
Nat Genet 1996
, vol.12
, pp. 248-253
-
-
Chang, S.S.1
Grunder, S.2
Hanukoglu, A.3
-
16
-
-
0030068042
-
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
-
Strautnieks SS, Thompson RJ, Gardiner R. M, et al.: A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 1996, 13:248-250.
-
(1996)
Nat Genet
, vol.13
, pp. 248-250
-
-
Strautnieks, S.S.1
Thompson, R.J.2
Gardiner, R.M.3
-
17
-
-
0031861245
-
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism, type I
-
Geller DS, Rodriquez-Soriano J, Boado AV, et al.: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism, type I. Nat Genet 1998, 19:279-281. Authoritative distinction between the dominant and recessive forms of pseudohypoaldosteronism, type I.
-
(1998)
Nat Genet
, vol.19
, pp. 279-281
-
-
Geller, D.S.1
Rodriquez-Soriano, J.2
Boado, A.V.3
-
18
-
-
0343247729
-
Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone
-
Hanukoglu A, Joy O, Steinitz M, et al.: Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone. J Steroid Biochem Molec Biol 1997, 60:105-112.
-
(1997)
J Steroid Biochem Molec Biol
, vol.60
, pp. 105-112
-
-
Hanukoglu, A.1
Joy, O.2
Steinitz, M.3
-
19
-
-
0029060080
-
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
-
Wilson RC, Krozowski ZS, Li K, et al.: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995, 80:2263-2266.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2263-2266
-
-
Wilson, R.C.1
Krozowski, Z.S.2
Li, K.3
-
20
-
-
0029160972
-
Human hypertension caused by mutations in the kidney isozyme of 11 betahydroxysteroid dehydrogenase
-
Mune T, Rogerson FM, Nikkila H, et al.: Human hypertension caused by mutations in the kidney isozyme of 11 betahydroxysteroid dehydrogenase. Nat Genet 1995, 10:394-399.
-
(1995)
Nat Genet
, vol.10
, pp. 394-399
-
-
Mune, T.1
Rogerson, F.M.2
Nikkila, H.3
-
21
-
-
0026441301
-
Mineralocorticoid excess and inhibition of 11b-hydroxysteroid dehydrogenase in patients with ectopic ACTH syndrome
-
Walker BR, Campbell JC, Fraser R, et al.: Mineralocorticoid excess and inhibition of 11b-hydroxysteroid dehydrogenase in patients with ectopic ACTH syndrome. Clin Endocrinol 1992, 37:483-492.
-
(1992)
Clin Endocrinol
, vol.37
, pp. 483-492
-
-
Walker, B.R.1
Campbell, J.C.2
Fraser, R.3
-
22
-
-
0023743171
-
Mineralocorticoid action: Target tissue specificity is enzyme, not receptor mediated
-
Funder JW, Pearce PT, Smith AT: Mineralocorticoid action: target tissue specificity is enzyme, not receptor mediated. Science 1987, 242:583-585.
-
(1987)
Science
, vol.242
, pp. 583-585
-
-
Funder, J.W.1
Pearce, P.T.2
Smith, A.T.3
-
23
-
-
0023242981
-
Mineralocorticoid activity of liquorice: 11b-hydroxysteroid dehydrogenase deficiency comes of age
-
Stewart PM, Valentino R, Wallace AM, et al.: Mineralocorticoid activity of liquorice: 11b-hydroxysteroid dehydrogenase deficiency comes of age. Lancet 1987, 2:821-824.
-
(1987)
Lancet
, vol.2
, pp. 821-824
-
-
Stewart, P.M.1
Valentino, R.2
Wallace, A.M.3
-
24
-
-
0030598951
-
Naringin and naringenin are not the primary CYP3A inhibitors in grapefruit juice
-
Edwards DJ, Bernier SM: Naringin and naringenin are not the primary CYP3A inhibitors in grapefruit juice. Life Sci 1996, 59:1025-1030.
-
(1996)
Life Sci
, vol.59
, pp. 1025-1030
-
-
Edwards, D.J.1
Bernier, S.M.2
-
25
-
-
0030069526
-
Grapefruit juice and its flavinoids inhibit 11b-hydroxysteroid dehydrogenase
-
Lee YS, Lorenzo BJ, Koufis T, et al.: Grapefruit juice and its flavinoids inhibit 11b-hydroxysteroid dehydrogenase. Clin Pharmacol Ther 1996, 59:62-71.
-
(1996)
Clin Pharmacol Ther
, vol.59
, pp. 62-71
-
-
Lee, Y.S.1
Lorenzo, B.J.2
Koufis, T.3
-
26
-
-
0025176537
-
Mineralocorticoid activity of carbenoxolone: Contrasting effects of carbenoxolone and liquorice on 11b-hydroxysteroid dehydrogenase activity in man
-
Stewart PM, Atherden SM, Shearing CH, et al.: Mineralocorticoid activity of carbenoxolone: contrasting effects of carbenoxolone and liquorice on 11b-hydroxysteroid dehydrogenase activity in man. Clin Sci 1990, 78:49-54.
-
(1990)
Clin Sci
, vol.78
, pp. 49-54
-
-
Stewart, P.M.1
Atherden, S.M.2
Shearing, C.H.3
-
27
-
-
0029888213
-
Sodium status, corticosteroid metabolism and blood pressure in normal human subjects and in a patient with abnormal salt appetite
-
Ingram MC, Wallace AM, Collier A, et al.: Sodium status, corticosteroid metabolism and blood pressure in normal human subjects and in a patient with abnormal salt appetite. Clin Exp Pharmacol Physiol 1996, 23:375-378.
-
(1996)
Clin Exp Pharmacol Physiol
, vol.23
, pp. 375-378
-
-
Ingram, M.C.1
Wallace, A.M.2
Collier, A.3
-
28
-
-
0027320739
-
Deficient inactivation of cortisol by 11b-hydroxysteroid dehydrogenase in essential hypertension
-
Walker BR, Stewart PM, Shackleton CHL, et al.: Deficient inactivation of cortisol by 11b-hydroxysteroid dehydrogenase in essential hypertension. Clin Endocrinol 1993, 39:221-227.
-
(1993)
Clin Endocrinol
, vol.39
, pp. 221-227
-
-
Walker, B.R.1
Stewart, P.M.2
Shackleton, C.H.L.3
-
29
-
-
0028967443
-
Evidence of coexisting changes in 11b-hydroxysteroid dehydrogenase and 5b reductase activity in subjects with untreated essential hypertension
-
Soro A, Ingram MC, Tonolo G, et al.: Evidence of coexisting changes in 11b-hydroxysteroid dehydrogenase and 5b reductase activity in subjects with untreated essential hypertension. Hypertension 1995, 25:67-70.
-
(1995)
Hypertension
, vol.25
, pp. 67-70
-
-
Soro, A.1
Ingram, M.C.2
Tonolo, G.3
-
30
-
-
0008547265
-
Salt-sensitivity is associated with impaired 11b-hydroxy-steroid dehydrogenase type 2 activity in humans [abstract]
-
Dick B, Sharma AM Schorr U, et al.: Salt-sensitivity is associated with impaired 11b-hydroxy-steroid dehydrogenase type 2 activity in humans [abstract]. J Am Soc Nephrol 1998, 9:322. Preliminary report suggesting that there may be a genetic association between salt-sensitive hypertension and human 11b-hydroxy-steroid dehydrogenase, type 2 activity.
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 322
-
-
Dick, B.1
Sharma, A.M.2
Schorr, U.3
-
31
-
-
0031723991
-
A new polymorphic restriction site in the human 11 beta-hydroxysteroid dehydrogenase type 2 gene
-
Smolenicka Z, Bach E, Schaer A, et al.: A new polymorphic restriction site in the human 11 beta-hydroxysteroid dehydrogenase type 2 gene. J Clin Endocrinol Metab 1998, 83:1814-1817. Simple bi-allelic polymorphism in an important candidate gene in human low renin hypertension.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1814-1817
-
-
Smolenicka, Z.1
Bach, E.2
Schaer, A.3
-
32
-
-
0347478279
-
Genetic Association of 11 beta-hydroxysteroid dehydrogenase type 2(HSD11B2) flanking microsatellites with essential hypertension in blacks
-
Watson BJ, Bergman SM, Myracle A, et al.: Genetic Association of 11 beta-hydroxysteroid dehydrogenase type 2(HSD11B2) flanking microsatellites with essential hypertension in blacks. Hypertension 1996, 28:478-482. Flanking microsatellites and allelic frequencies for an important candidate gene in blacks with low renin hypertension.
-
(1996)
Hypertension
, vol.28
, pp. 478-482
-
-
Watson, B.J.1
Bergman, S.M.2
Myracle, A.3
-
33
-
-
0026919361
-
Hereditary hypertension caused by chimeric gene duplications and ectopic expression of aldosterone synthase
-
Lifton RP, Dluhy RG, Powers M, et al.: Hereditary hypertension caused by chimeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet 1992, 2:66-74.
-
(1992)
Nat Genet
, vol.2
, pp. 66-74
-
-
Lifton, R.P.1
Dluhy, R.G.2
Powers, M.3
-
34
-
-
0026580019
-
A chimaeric 11 b-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
-
Lifton RP, Dluhy RG, Powers M, et al.: A chimaeric 11 b-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992, 355:262-265.
-
(1992)
Nature
, vol.355
, pp. 262-265
-
-
Lifton, R.P.1
Dluhy, R.G.2
Powers, M.3
-
35
-
-
0028883357
-
Glucocorticoidsuppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree
-
Pascoe L, Jeunemaitre X, Lebrethon M-C, et al.: Glucocorticoidsuppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree. J Clin Invest 1995, 96:2236-2246.
-
(1995)
J Clin Invest
, vol.96
, pp. 2236-2246
-
-
Pascoe, L.1
Jeunemaitre, X.2
Lebrethon, M.-C.3
-
36
-
-
0027052962
-
Glucocorticoid-remediable aldosteronism in a large kindred: Clinical spectrum and diagnosis using a characteristic biochemical phenotype
-
Rich G, Ulick S, Cook S, et al.: Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Int Med 1992, 116:813-820.
-
(1992)
Ann Int Med
, vol.116
, pp. 813-820
-
-
Rich, G.1
Ulick, S.2
Cook, S.3
-
37
-
-
0030465271
-
11b-hydroxylase activity in glucocorticoid suppressible hyperaldosteronism: Lessons for essential hypertension
-
Connell JMC, Jamieson AJ, Davies E, et al.: 11b-hydroxylase activity in glucocorticoid suppressible hyperaldosteronism: lessons for essential hypertension. Endocrinol Res 1996, 22:691-700.
-
(1996)
Endocrinol Res
, vol.22
, pp. 691-700
-
-
Connell, J.M.C.1
Jamieson, A.J.2
Davies, E.3
-
38
-
-
0029847663
-
Inherited forms of mineralocorticoid hypertension
-
White PC: Inherited forms of mineralocorticoid hypertension. Hypertension 1996, 28:927-936.
-
(1996)
Hypertension
, vol.28
, pp. 927-936
-
-
White, P.C.1
-
39
-
-
0025729737
-
Inappropriate elevation of the aldosterone/plasma renin activity ratio in hypertensive patients and 18-hydroxy-11-deoxycorticosterone: A subtype of essential hypertension?
-
Komiya I, Yamada T, Aizawa T, et al.: Inappropriate elevation of the aldosterone/plasma renin activity ratio in hypertensive patients and 18-hydroxy-11-deoxycorticosterone: a subtype of essential hypertension? Cardiology 1991, 78:99-110.
-
(1991)
Cardiology
, vol.78
, pp. 99-110
-
-
Komiya, I.1
Yamada, T.2
Aizawa, T.3
-
40
-
-
0030068024
-
Molecular genetics of human blood pressure variation
-
Lifton RP: Molecular genetics of human blood pressure variation. Science 1996, 272:676-680.
-
(1996)
Science
, vol.272
, pp. 676-680
-
-
Lifton, R.P.1
-
41
-
-
0029799269
-
Molecular biology of mineralocorticoid metabolism
-
Fardella CE, Miller WL: Molecular biology of mineralocorticoid metabolism. Ann Rev Nutr 1996, 16:443-470.
-
(1996)
Ann Rev Nutr
, vol.16
, pp. 443-470
-
-
Fardella, C.E.1
Miller, W.L.2
-
42
-
-
0028939142
-
Primary aldosteronism
-
Holland OB: Primary aldosteronism. Semin Nephrol 1995, 15:116-125.
-
(1995)
Semin Nephrol
, vol.15
, pp. 116-125
-
-
Holland, O.B.1
-
43
-
-
0029890003
-
Altered 11b-hydroxylase activity in glucocorticoid-suppressible hyperaldosteronism
-
Jamieson A, Ingram, MC, Inglis, GC, et al.: Altered 11b-hydroxylase activity in glucocorticoid-suppressible hyperaldosteronism. J Clin Endocrinol Metab 1996, 81:2298-2302.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2298-2302
-
-
Jamieson, A.1
Ingram, M.C.2
Inglis, G.C.3
|