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Volumn 51, Issue 3, 2007, Pages 373-381

Mineralocorticoid resistance: Pseudohypoaldosteronism type 1;Resistência aos mineralocorticóides: Pseudo-hipoaldosteronismo tipo 1

Author keywords

Aldosterone; ENaC; Mineralocorticoid receptor; Type 1 pseudohypoaldosteronism

Indexed keywords


EID: 34250182768     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302007000300004     Document Type: Review
Times cited : (6)

References (64)
  • 1
    • 0037968583 scopus 로고    scopus 로고
    • Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism
    • Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, et al. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab 2003;88(6):2508-17.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.6 , pp. 2508-2517
    • Sartorato, P.1    Lapeyraque, A.L.2    Armanini, D.3    Kuhnle, U.4    Khaldi, Y.5    Salomon, R.6
  • 2
    • 18444397746 scopus 로고    scopus 로고
    • Mineralocorticoid resistance
    • Geller DS. Mineralocorticoid resistance. Clin Endocrinol (Oxf) 2005;62(5):513-20.
    • (2005) Clin Endocrinol (Oxf) , vol.62 , Issue.5 , pp. 513-520
    • Geller, D.S.1
  • 4
    • 0034898520 scopus 로고    scopus 로고
    • Corticosteroid actions in the hippocampus
    • Joels M. Corticosteroid actions in the hippocampus. J Neuroendocrinol 2001;13(8):657-69.
    • (2001) J Neuroendocrinol , vol.13 , Issue.8 , pp. 657-669
    • Joels, M.1
  • 5
    • 0032520920 scopus 로고    scopus 로고
    • Hibernoma development in transgenic mice identifies brown adipose tissue as a novel target of aldosterone action
    • Zennaro MC, Le Menuet D, Viengchareun S, Walker F, Ricquier D, Lombes M. Hibernoma development in transgenic mice identifies brown adipose tissue as a novel target of aldosterone action. J Clin Invest 1998;101(6):1254-60.
    • (1998) J Clin Invest , vol.101 , Issue.6 , pp. 1254-1260
    • Zennaro, M.C.1    Le Menuet, D.2    Viengchareun, S.3    Walker, F.4    Ricquier, D.5    Lombes, M.6
  • 7
    • 0034997787 scopus 로고    scopus 로고
    • Mineralocorticoid and glucocorticoid receptors inhibit UCP expression and function in brown adipocytes
    • Viengchareun S, Penfornis P, Zennaro MC, Lombes M. Mineralocorticoid and glucocorticoid receptors inhibit UCP expression and function in brown adipocytes. Am J Physiol Endocrinol Metab 2001;280(4):E640-9.
    • (2001) Am J Physiol Endocrinol Metab , vol.280 , Issue.4
    • Viengchareun, S.1    Penfornis, P.2    Zennaro, M.C.3    Lombes, M.4
  • 8
    • 0035687851 scopus 로고    scopus 로고
    • Mineralocorticoids and cardiac fibrosis: The decade in review
    • Funder J. Mineralocorticoids and cardiac fibrosis: the decade in review. Clin Exp Pharmacol Physiol 2001;28(12):1002-6.
    • (2001) Clin Exp Pharmacol Physiol , vol.28 , Issue.12 , pp. 1002-1006
    • Funder, J.1
  • 9
    • 0027245468 scopus 로고
    • Vasodilation to acetylcholine in primary and secondary forms of human hypertension
    • Taddei S, Virdis A, Mattei P, Salvetti A. Vasodilation to acetylcholine in primary and secondary forms of human hypertension. Hypertension 1993;21(6 Pt 2):929-33.
    • (1993) Hypertension , vol.21 , Issue.6 PART 2 , pp. 929-933
    • Taddei, S.1    Virdis, A.2    Mattei, P.3    Salvetti, A.4
  • 10
    • 0027081410 scopus 로고
    • Mineralocorticoid excess, dietary sodium, and myocardial fibrosis
    • Brilla CG, Weber KT. Mineralocorticoid excess, dietary sodium, and myocardial fibrosis. J Lab Clin Med 1992;120(6):893-901.
    • (1992) J Lab Clin Med , vol.120 , Issue.6 , pp. 893-901
    • Brilla, C.G.1    Weber, K.T.2
  • 11
    • 22544466731 scopus 로고    scopus 로고
    • The new biology of aldosterone
    • Connell JM, Davies E. The new biology of aldosterone. J Endocrinol 2005;186(1):1-20.
    • (2005) J Endocrinol , vol.186 , Issue.1 , pp. 1-20
    • Connell, J.M.1    Davies, E.2
  • 12
    • 0033517302 scopus 로고    scopus 로고
    • The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators
    • Pitt B, Zannad F, Remme WJ, Cody R, Castaigne A, Perez A, et al. The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators. N Engl J Med 1999;341(10):709-17.
    • (1999) N Engl J Med , vol.341 , Issue.10 , pp. 709-717
    • Pitt, B.1    Zannad, F.2    Remme, W.J.3    Cody, R.4    Castaigne, A.5    Perez, A.6
  • 13
    • 0242608659 scopus 로고    scopus 로고
    • Mineralocorticoid receptor blockade: New insights into the mechanism of action in patients with cardiovascular disease
    • Pitt B, Stier CT Jr, Rajagopalan S. Mineralocorticoid receptor blockade: new insights into the mechanism of action in patients with cardiovascular disease. J Renin Angiotensin Aldosterone Syst 2003;4(3):164-8.
    • (2003) J Renin Angiotensin Aldosterone Syst , vol.4 , Issue.3 , pp. 164-168
    • Pitt, B.1    Stier Jr, C.T.2    Rajagopalan, S.3
  • 15
    • 0041806574 scopus 로고    scopus 로고
    • Aldosterone: Its receptor, target genes, and actions
    • Pearce D, Bhargava A, Cole TJ. Aldosterone: its receptor, target genes, and actions. Vitam Horm 2003;66:29-76.
    • (2003) Vitam Horm , vol.66 , pp. 29-76
    • Pearce, D.1    Bhargava, A.2    Cole, T.J.3
  • 17
    • 0034079734 scopus 로고    scopus 로고
    • Pleiotropic action of aldosterone in epithelia mediated by transcription and post-transcription mechanisms
    • Verrey F, Pearce D, Pfeiffer R, Spindler B, Mastroberardino L, Summa V, et al. Pleiotropic action of aldosterone in epithelia mediated by transcription and post-transcription mechanisms. Kidney Int 2000;57(4):1277-82.
    • (2000) Kidney Int , vol.57 , Issue.4 , pp. 1277-1282
    • Verrey, F.1    Pearce, D.2    Pfeiffer, R.3    Spindler, B.4    Mastroberardino, L.5    Summa, V.6
  • 18
    • 0030972111 scopus 로고    scopus 로고
    • Characterization of early aldosterone-induced RNAs identified in A6 kidney epithelia
    • Spindler B, Mastroberardino L, Custer M, Verrey F. Characterization of early aldosterone-induced RNAs identified in A6 kidney epithelia. Pflugers Arch 1997;434(3):323-31.
    • (1997) Pflugers Arch , vol.434 , Issue.3 , pp. 323-331
    • Spindler, B.1    Mastroberardino, L.2    Custer, M.3    Verrey, F.4
  • 19
    • 0033546341 scopus 로고    scopus 로고
    • Sgk is an aldosterone-induced kinase in the renal collecting duct. Effects on epithelial Na+ channels
    • Naray-Fejes-Toth A, Canessa C, Cleaveland ES, Aldrich G, Fejes-Toth G. Sgk is an aldosterone-induced kinase in the renal collecting duct. Effects on epithelial Na+ channels. J Biol Chem 1999;274(24):16973-8.
    • (1999) J Biol Chem , vol.274 , Issue.24 , pp. 16973-16978
    • Naray-Fejes-Toth, A.1    Canessa, C.2    Cleaveland, E.S.3    Aldrich, G.4    Fejes-Toth, G.5
  • 20
    • 0035049144 scopus 로고    scopus 로고
    • The serum- and glucocorticoid-induced kinase is a physiological mediator of aldosterone action
    • Bhargava A, Fullerton MJ, Myles K, Purdy TM, Funder JW, Pearce D, et al. The serum- and glucocorticoid-induced kinase is a physiological mediator of aldosterone action. Endocrinology 2001;142(4):1587-94.
    • (2001) Endocrinology , vol.142 , Issue.4 , pp. 1587-1594
    • Bhargava, A.1    Fullerton, M.J.2    Myles, K.3    Purdy, T.M.4    Funder, J.W.5    Pearce, D.6
  • 21
    • 0035956993 scopus 로고    scopus 로고
    • Transcriptome of a mouse kidney cortical collecting duct cell line: Effects of aldosterone and vasopressin
    • Robert-Nicoud M, Flahaut M, Elalouf JM, Nicod M, Salinas M, Bens M, et al. Transcriptome of a mouse kidney cortical collecting duct cell line: effects of aldosterone and vasopressin. Proc Natl Acad Sci USA 2001;98(5):2712-6.
    • (2001) Proc Natl Acad Sci USA , vol.98 , Issue.5 , pp. 2712-2716
    • Robert-Nicoud, M.1    Flahaut, M.2    Elalouf, J.M.3    Nicod, M.4    Salinas, M.5    Bens, M.6
  • 22
    • 0037199934 scopus 로고    scopus 로고
    • Characterization of rat NDRG2 (N-Myc downstream regulated gene 2), a novel early mineralocorticoid-specific induced gene
    • Boulkroun S, Fay M, Zennaro MC, Escoubet B, Jaisser F, Blot-Chabaud M, et al. Characterization of rat NDRG2 (N-Myc downstream regulated gene 2), a novel early mineralocorticoid-specific induced gene. J Biol Chem 2002;277(35):31506-15.
    • (2002) J Biol Chem , vol.277 , Issue.35 , pp. 31506-31515
    • Boulkroun, S.1    Fay, M.2    Zennaro, M.C.3    Escoubet, B.4    Jaisser, F.5    Blot-Chabaud, M.6
  • 23
    • 2342446560 scopus 로고    scopus 로고
    • Expression and function of the human mineralocorticoid receptor: Lessons from transgenic mouse models
    • Le Menuet D, Viengchareun S, Muffat-Joly M, Zennaro MC, Lombes M. Expression and function of the human mineralocorticoid receptor: lessons from transgenic mouse models. Mol Cell Endocrinol 2004;217(1-2):127-36.
    • (2004) Mol Cell Endocrinol , vol.217 , Issue.1-2 , pp. 127-136
    • Le Menuet, D.1    Viengchareun, S.2    Muffat-Joly, M.3    Zennaro, M.C.4    Lombes, M.5
  • 24
    • 0037391227 scopus 로고    scopus 로고
    • Regulation of the epithelial sodium channel by accessory proteins
    • Gormley K, Dong Y, Sagnella GA. Regulation of the epithelial sodium channel by accessory proteins. Biochem 2003;371(Pt 1):1-14.
    • (2003) Biochem , vol.371 , Issue.PART 1 , pp. 1-14
    • Gormley, K.1    Dong, Y.2    Sagnella, G.A.3
  • 25
    • 18844367745 scopus 로고    scopus 로고
    • The nongenomic actions of aldosterone
    • Funder J. The nongenomic actions of aldosterone. Endocr Rev 2005;26(3):313-21.
    • (2005) Endocr Rev , vol.26 , Issue.3 , pp. 313-321
    • Funder, J.1
  • 26
    • 0001601125 scopus 로고
    • A salt wasting syndrome in infancy
    • Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child 1958;33(169):252-6.
    • (1958) Arch Dis Child , vol.33 , Issue.169 , pp. 252-256
    • Cheek, D.B.1    Perry, J.W.2
  • 27
    • 0031861245 scopus 로고    scopus 로고
    • Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
    • Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998;19(3):279-81.
    • (1998) Nat Genet , vol.19 , Issue.3 , pp. 279-281
    • Geller, D.S.1    Rodriguez-Soriano, J.2    Vallo Boado, A.3    Schifter, S.4    Bayer, M.5    Chang, S.S.6
  • 28
    • 0025305359 scopus 로고
    • Pseudohypoaldosteronism in eight families: Different forms of inheritance are evidence for various genetic defects
    • Kuhnle U, Nielsen MD, Tietze HU, Schroeter CH, Schlamp D, Bosson D, et al. Pseudohypoaldosteronism in eight families: different forms of inheritance are evidence for various genetic defects. J Clin Endocrinol Metab 1990;70(3):638-41.
    • (1990) J Clin Endocrinol Metab , vol.70 , Issue.3 , pp. 638-641
    • Kuhnle, U.1    Nielsen, M.D.2    Tietze, H.U.3    Schroeter, C.H.4    Schlamp, D.5    Bosson, D.6
  • 30
    • 0025789561 scopus 로고
    • Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects
    • Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab 1991;73(5):936-44.
    • (1991) J Clin Endocrinol Metab , vol.73 , Issue.5 , pp. 936-944
    • Hanukoglu, A.1
  • 31
    • 0028143993 scopus 로고
    • Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis
    • Hanukoglu A, Bistritzer T, Rakover Y, Mandelberg A. Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J Pediatr 1994;125(5 Pt 1):752-5.
    • (1994) J Pediatr , vol.125 , Issue.5 PART 1 , pp. 752-755
    • Hanukoglu, A.1    Bistritzer, T.2    Rakover, Y.3    Mandelberg, A.4
  • 32
    • 0018777720 scopus 로고
    • Pseudohypoaldosteronism: Multiple target organ unresponsiveness to mineralocorticoid hormones
    • Oberfield SE, Levine LS, Carey RM, Bejar R, New MI. Pseudohypoaldosteronism: multiple target organ unresponsiveness to mineralocorticoid hormones. J Clin Endocrinol Metab 1979;48(2):228-34.
    • (1979) J Clin Endocrinol Metab , vol.48 , Issue.2 , pp. 228-234
    • Oberfield, S.E.1    Levine, L.S.2    Carey, R.M.3    Bejar, R.4    New, M.I.5
  • 33
    • 0020050591 scopus 로고
    • Pseudohypoaldosteronism: Severe salt wasting in infancy caused by generalized mineralocorticoid unresponsiveness
    • Savage MO, Jefferson IG, Dillon MJ, Milla PJ, Honour JW, Grant DB. Pseudohypoaldosteronism: severe salt wasting in infancy caused by generalized mineralocorticoid unresponsiveness. J Pediatr 1982;101(2):239-42.
    • (1982) J Pediatr , vol.101 , Issue.2 , pp. 239-242
    • Savage, M.O.1    Jefferson, I.G.2    Dillon, M.J.3    Milla, P.J.4    Honour, J.W.5    Grant, D.B.6
  • 34
    • 0022992910 scopus 로고
    • Generalized unresponsiveness to mineralocorticoid hormones: Familial recessive pseudohypoaldosteronism due to aldosterone-receptor deficiency
    • Bosson D, Kuhnle U, Mees N, Ramet J, Vamos E, Vertongen F, et al. Generalized unresponsiveness to mineralocorticoid hormones: familial recessive pseudohypoaldosteronism due to aldosterone-receptor deficiency. Acta Endocrinol Suppl (Copenh) 1986;279:376-80.
    • (1986) Acta Endocrinol Suppl (Copenh) , vol.279 , pp. 376-380
    • Bosson, D.1    Kuhnle, U.2    Mees, N.3    Ramet, J.4    Vamos, E.5    Vertongen, F.6
  • 35
    • 13344295074 scopus 로고    scopus 로고
    • Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
    • Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nature Genet 1996;12:248-53.
    • (1996) Nature Genet , vol.12 , pp. 248-253
    • Chang, S.S.1    Grunder, S.2    Hanukoglu, A.3    Rosler, A.4    Mathew, P.M.5    Hanukoglu, I.6
  • 36
    • 0030068042 scopus 로고    scopus 로고
    • 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 RM, Chung E. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nature Genet 1996;13:248-50.
    • (1996) Nature Genet , vol.13 , pp. 248-250
    • Strautnieks, S.S.1    Thompson, R.J.2    Gardiner, R.M.3    Chung, E.4
  • 37
    • 0033306162 scopus 로고    scopus 로고
    • Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: Do they have pathologic potential?
    • Arai K, Zachman K, Shibasaki T, Chrousos GP. Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? J Clin Endocrinol Metab 1999;84:2434-7.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2434-2437
    • Arai, K.1    Zachman, K.2    Shibasaki, T.3    Chrousos, G.P.4
  • 38
    • 0035140348 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G - >A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1
    • Adachi M, Tachibana K, Asakura Y, Abe S, Nakae J, Tajima T, et al. Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G - >A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 2001;86(1):9-12.
    • (2001) J Clin Endocrinol Metab , vol.86 , Issue.1 , pp. 9-12
    • Adachi, M.1    Tachibana, K.2    Asakura, Y.3    Abe, S.4    Nakae, J.5    Tajima, T.6
  • 39
    • 0036307827 scopus 로고    scopus 로고
    • Epithelial sodium channel/degenerin family of ion channels: A variety of functions for a shared structure
    • Kellenberger S, Schild L. Epithelial sodium channel/degenerin family of ion channels: a variety of functions for a shared structure. Physiol Rev 2002;82(3):735-67.
    • (2002) Physiol Rev , vol.82 , Issue.3 , pp. 735-767
    • Kellenberger, S.1    Schild, L.2
  • 42
    • 0027958441 scopus 로고
    • Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits
    • Canessa CM, Schild L, Buell G, Thorens B, Gautschi I, Horisberger JD, et al. Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits. Nature 1994;367(6462):463-7.
    • (1994) Nature , vol.367 , Issue.6462 , pp. 463-467
    • Canessa, C.M.1    Schild, L.2    Buell, G.3    Thorens, B.4    Gautschi, I.5    Horisberger, J.D.6
  • 43
    • 0033565228 scopus 로고    scopus 로고
    • Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism
    • Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999;341(3):156-62.
    • (1999) N Engl J Med , vol.341 , Issue.3 , pp. 156-162
    • Kerem, E.1    Bistritzer, T.2    Hanukoglu, A.3    Hofmann, T.4    Zhou, Z.5    Bennett, W.6
  • 44
    • 0033498876 scopus 로고    scopus 로고
    • Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel
    • Schaedel C,Marthinsen L, Kristoffersson AC, Kornfalt R, Nilsson KO, Orlenius B, et al. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr 1999;135(6):739-45.
    • (1999) J Pediatr , vol.135 , Issue.6 , pp. 739-745
    • Schaedel, C.1    Marthinsen, L.2    Kristoffersson, A.C.3    Kornfalt, R.4    Nilsson, K.O.5    Orlenius, B.6
  • 45
    • 0036319763 scopus 로고    scopus 로고
    • Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes
    • Saxena A, Hanukoglu I, Saxena D, Thompson RJ, Gardiner RM, Hanukoglu A. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. J Clin Endocrinol Metab 2002;87(7):3344-50.
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.7 , pp. 3344-3350
    • Saxena, A.1    Hanukoglu, I.2    Saxena, D.3    Thompson, R.J.4    Gardiner, R.M.5    Hanukoglu, A.6
  • 46
    • 0036955984 scopus 로고    scopus 로고
    • A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism
    • Bonny O, Knoers N, Monnens L, Rossier BC. A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism. Pediatr Nephrol 2002;17(10):804-8.
    • (2002) Pediatr Nephrol , vol.17 , Issue.10 , pp. 804-808
    • Bonny, O.1    Knoers, N.2    Monnens, L.3    Rossier, B.C.4
  • 47
    • 0034489575 scopus 로고    scopus 로고
    • A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1
    • Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, et al. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocr Metab 2000;85:4690-4.
    • (2000) J Clin Endocr Metab , vol.85 , pp. 4690-4694
    • Tajima, T.1    Kitagawa, H.2    Yokoya, S.3    Tachibana, K.4    Adachi, M.5    Nakae, J.6
  • 48
    • 0035012297 scopus 로고    scopus 로고
    • Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: Identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds
    • Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J Clin Endocr Metab 2001;86:2056-9.
    • (2001) J Clin Endocr Metab , vol.86 , pp. 2056-2059
    • Viemann, M.1    Peter, M.2    Lopez-Siguero, J.P.3    Simic-Schleicher, G.4    Sippell, W.G.5
  • 49
    • 0037683732 scopus 로고    scopus 로고
    • Identification of a novel mutation in the human mineralocorticoid receptor gene in a German family with autosomal-dominant pseudohypoaldosteronism type 1: Further evidence for marked interindividual clinical heterogeneity
    • Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch CJ. Identification of a novel mutation in the human mineralocorticoid receptor gene in a German family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab 2003;88(4):1683-6.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.4 , pp. 1683-1686
    • Riepe, F.G.1    Krone, N.2    Morlot, M.3    Ludwig, M.4    Sippell, W.G.5    Partsch, C.J.6
  • 50
    • 0842291486 scopus 로고    scopus 로고
    • A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1)
    • Nystrom AM, Bondeson ML, Skanke N, Martensson J, Stromberg B, Gustafsson J, et al. A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). J Clin Endocrinol Metab 2004;89(1):227-31.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.1 , pp. 227-231
    • Nystrom, A.M.1    Bondeson, M.L.2    Skanke, N.3    Martensson, J.4    Stromberg, B.5    Gustafsson, J.6
  • 51
    • 2442462008 scopus 로고    scopus 로고
    • Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene
    • Riepe FG, Krone N, Morlot M, Peter M, Sippell WG, Partsch CJ. Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. J Clin Endocrinol Metab 2004;89(5):2150-2.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.5 , pp. 2150-2152
    • Riepe, F.G.1    Krone, N.2    Morlot, M.3    Peter, M.4    Sippell, W.G.5    Partsch, C.J.6
  • 52
    • 33646357245 scopus 로고    scopus 로고
    • Autosomal dominant pseudohypoaldosteronism type 1: Mechanisms, evidence for neonatal lethality, and phenotypic expression in adults
    • Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, Furu L, et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 2006;17(5):1429-36.
    • (2006) J Am Soc Nephrol , vol.17 , Issue.5 , pp. 1429-1436
    • Geller, D.S.1    Zhang, J.2    Zennaro, M.C.3    Vallo-Boado, A.4    Rodriguez-Soriano, J.5    Furu, L.6
  • 53
    • 4544376911 scopus 로고    scopus 로고
    • New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand binding
    • Sartorato P, Cluzeaud F, Fagart J, Viengchareun S, Lombes M, Zennaro MC. New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand binding. Mol Endocrinol 2004;18(9):2151-65.
    • (2004) Mol Endocrinol , vol.18 , Issue.9 , pp. 2151-2165
    • Sartorato, P.1    Cluzeaud, F.2    Fagart, J.3    Viengchareun, S.4    Lombes, M.5    Zennaro, M.C.6
  • 54
    • 0035177257 scopus 로고    scopus 로고
    • Induction of the epithelial Na+ channel via glucocorticoids in mineralocorticoid receptor knockout mice
    • Schulz-Baldes A, Berger S, Grahammer F, Warth R, Goldschmidt I, Peters J, et al. Induction of the epithelial Na+ channel via glucocorticoids in mineralocorticoid receptor knockout mice. Pflugers Arch 2001;443(2):297- 305.
    • (2001) Pflugers Arch , vol.443 , Issue.2 , pp. 297-305
    • Schulz-Baldes, A.1    Berger, S.2    Grahammer, F.3    Warth, R.4    Goldschmidt, I.5    Peters, J.6
  • 55
    • 0033963471 scopus 로고    scopus 로고
    • Developmental expression of ROMK mRNA in rabbit cortical collecting duct
    • Benchimol C, Zavilowitz B, Satlin LM. Developmental expression of ROMK mRNA in rabbit cortical collecting duct. Pediatr Res 2000;47(1):46-52.
    • (2000) Pediatr Res , vol.47 , Issue.1 , pp. 46-52
    • Benchimol, C.1    Zavilowitz, B.2    Satlin, L.M.3
  • 56
    • 0023825320 scopus 로고
    • Nuclear receptors: A re-evaluation
    • Evans WH, Bergeron JJ. Nuclear receptors: a re-evaluation. Trends Biochem Sci 1988;13(1):7-8.
    • (1988) Trends Biochem Sci , vol.13 , Issue.1 , pp. 7-8
    • Evans, W.H.1    Bergeron, J.J.2
  • 57
    • 0026600841 scopus 로고
    • Identification of a conserved region required for hormone dependent transcriptional activation by steroid hormone receptors
    • Danielian PS, White R, Lees JA, Parker MG. Identification of a conserved region required for hormone dependent transcriptional activation by steroid hormone receptors. EMBO J 1992;11(3):1025-33.
    • (1992) EMBO J , vol.11 , Issue.3 , pp. 1025-1033
    • Danielian, P.S.1    White, R.2    Lees, J.A.3    Parker, M.G.4
  • 60
    • 24344433108 scopus 로고    scopus 로고
    • The mineralocorticoid receptor: A journey exploring its diversity and specificity of action
    • Pascual-Le Tallec L, Lombes M. The mineralocorticoid receptor: a journey exploring its diversity and specificity of action. Mol Endocrinol 2005;19(9):2211-21.
    • (2005) Mol Endocrinol , vol.19 , Issue.9 , pp. 2211-2221
    • Pascual-Le Tallec, L.1    Lombes, M.2
  • 61
    • 0037208826 scopus 로고    scopus 로고
    • Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism
    • Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, et al. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet 2003;112(1):91-7.
    • (2003) Hum Genet , vol.112 , Issue.1 , pp. 91-97
    • Arai, K.1    Nakagomi, Y.2    Iketani, M.3    Shimura, Y.4    Amemiya, S.5    Ohyama, K.6
  • 62
    • 0027940537 scopus 로고
    • Physiological and molecular aspects of mineralocorticoid receptor action in pseudohypoaldosteronism: A responsiveness test and therapy
    • Arai K, Tsigos C, Suzuki Y, Irony I, Karl M, Listwak S, et al. Physiological and molecular aspects of mineralocorticoid receptor action in pseudohypoaldosteronism: a responsiveness test and therapy. J Clin Endocrinol Metab 1994;79(4):1019-23.
    • (1994) J Clin Endocrinol Metab , vol.79 , Issue.4 , pp. 1019-1023
    • Arai, K.1    Tsigos, C.2    Suzuki, Y.3    Irony, I.4    Karl, M.5    Listwak, S.6
  • 63
    • 0034617130 scopus 로고    scopus 로고
    • Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
    • Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, et al. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 2000;289(5476):119-23.
    • (2000) Science , vol.289 , Issue.5476 , pp. 119-123
    • Geller, D.S.1    Farhi, A.2    Pinkerton, N.3    Fradley, M.4    Moritz, M.5    Spitzer, A.6
  • 64
    • 33748755875 scopus 로고    scopus 로고
    • Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: Evidence for a mutational hot spot in the mineralocorticoid receptor gene
    • Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell W, Riepe FG, Antonini SR. Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. J Clin Endocrinol Metab 2006;91(9):3671-5.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.9 , pp. 3671-3675
    • Fernandes-Rosa, F.L.1    de Castro, M.2    Latronico, A.C.3    Sippell, W.4    Riepe, F.G.5    Antonini, S.R.6


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