메뉴 건너뛰기




Volumn 135, Issue 6, 1999, Pages 739-745

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the α-subunit of the epithelial sodium channel

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; SODIUM CHANNEL; SODIUM ION; TRYPTOPHAN;

EID: 0033498876     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(99)70094-6     Document Type: Article
Times cited : (91)

References (32)
  • 1
    • 0001601125 scopus 로고
    • A salt-wasting syndrome in infancy
    • 1. Cheek D, Perry J. A salt-wasting syndrome in infancy. Arch Dis Child 1958;33:252-6.
    • (1958) Arch Dis Child , vol.33 , pp. 252-256
    • Cheek, D.1    Perry, J.2
  • 2
    • 0031861245 scopus 로고    scopus 로고
    • Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type 1
    • 2. Geller D, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang S, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type 1. Nature Genet 1998;19:279-81.
    • (1998) Nature Genet , vol.19 , pp. 279-281
    • Geller, D.1    Rodriguez-Soriano, J.2    Vallo Boado, A.3    Schifter, S.4    Bayer, M.5    Chang, S.6
  • 3
    • 13344295074 scopus 로고    scopus 로고
    • Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
    • 3. Chang S, Grunder S, Hanukoglu A, Rösler A, Mathew P, 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.1    Grunder, S.2    Hanukoglu, A.3    Rösler, A.4    Mathew, P.5    Hanukoglu, I.6
  • 4
    • 0030068042 scopus 로고    scopus 로고
    • A novel splice-site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
    • 4. Strautnieks S, Thompson R, Gardiner M, Chung E. A novel splice-site mutation in the γ 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.1    Thompson, R.2    Gardiner, M.3    Chung, E.4
  • 5
    • 0022973473 scopus 로고
    • Na+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyciase activation
    • 5. Boucher R, Stutts M, Knowles M, Cantley L, Gatzy J. Na+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyciase activation. J Clin Invest 1986;78:1245-52.
    • (1986) J Clin Invest , vol.78 , pp. 1245-1252
    • Boucher, R.1    Stutts, M.2    Knowles, M.3    Cantley, L.4    Gatzy, J.5
  • 6
    • 0028057974 scopus 로고
    • The lung amilonde-sensitive Na+ channel: Biophysical properties, pharmacology, ontogenesis, and molecular cloning
    • 6. Voilley N, Lingueglia E, Champigny G, Mattei MG, Waldmann R, Lazdunski M, et al. The lung amilonde-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning. Proc Natl Acad Sci USA 1994;91:247-51.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 247-251
    • Voilley, N.1    Lingueglia, E.2    Champigny, G.3    Mattei, M.G.4    Waldmann, R.5    Lazdunski, M.6
  • 7
    • 0032518665 scopus 로고    scopus 로고
    • The heterotetrameric architecture of the epithelial sodium channel (ENaC)
    • 7. Firsov D, Gautschi I, Merillat AM, Rossier BC, Schild L. The heterotetrameric architecture of the epithelial sodium channel (ENaC). EMBO J 1998;17:344-52
    • (1998) EMBO J , vol.17 , pp. 344-352
    • Firsov, D.1    Gautschi, I.2    Merillat, A.M.3    Rossier, B.C.4    Schild, L.5
  • 8
    • 0027958441 scopus 로고
    • Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits
    • 8. Canessa C, Schild L, Buell G, Thorens B, Gautschi I, Horisberger J-D, et al. Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits. Nature 1994;367:463-7.
    • (1994) Nature , vol.367 , pp. 463-467
    • Canessa, C.1    Schild, L.2    Buell, G.3    Thorens, B.4    Gautschi, I.5    Horisberger, J.-D.6
  • 9
    • 0028278274 scopus 로고
    • Cloning, expression, and tissue distribution of a human amiloridesensitive Na+ channel
    • 9. McDonald F, Snyder P, McCray J, Welsh M. Cloning, expression, and tissue distribution of a human amiloridesensitive Na+ channel. Am J Physiol 1994;266:L728-34.
    • (1994) Am J Physiol , vol.266
    • McDonald, F.1    Snyder, P.2    McCray, J.3    Welsh, M.4
  • 10
    • 0029005859 scopus 로고
    • Cloning and expression of the β-and γ-subunits of the human epithelial sodium channel
    • 10. McDonald F, Price M, Snyder P, Welsh M. Cloning and expression of the β-and γ-subunits of the human epithelial sodium channel. Am J Physiol 1995;268:C1157-63.
    • (1995) Am J Physiol , vol.268
    • McDonald, F.1    Price, M.2    Snyder, P.3    Welsh, M.4
  • 11
    • 0030047193 scopus 로고    scopus 로고
    • Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping
    • 11. Strautnieks S, Thompson R, Hanukoglu A, Dillon M, Hanukoglu I, Kuhnle U, et al. Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum Mol Genet 1996;5:293-9.
    • (1996) Hum Mol Genet , vol.5 , pp. 293-299
    • Strautnieks, S.1    Thompson, R.2    Hanukoglu, A.3    Dillon, M.4    Hanukoglu, I.5    Kuhnle, U.6
  • 12
    • 0028143993 scopus 로고
    • Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis
    • 12. 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;125:752-5.
    • (1994) J Pediatr , vol.125 , pp. 752-755
    • Hanukoglu, A.1    Bistritzer, T.2    Rakover, Y.3    Mandelberg, A.4
  • 13
    • 0001419480 scopus 로고    scopus 로고
    • Pseudohypoaldosteronism and sodium transport
    • 13. MacLaughlin E. Pseudohypoaldosteronism and sodium transport. Pediatr Pulmonol 1996;13:181-2.
    • (1996) Pediatr Pulmonol , vol.13 , pp. 181-182
    • MacLaughlin, E.1
  • 14
    • 0031746072 scopus 로고    scopus 로고
    • Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type 1 pseudohypoaldosteronism
    • 14. Marthinsen L, Kornfält R, Aili M, Andersson D, Westgren U, Schaedel C. Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type 1 pseudohypoaldosteronism. Acta Paediatr 1998;87:472-4.
    • (1998) Acta Paediatr , vol.87 , pp. 472-474
    • Marthinsen, L.1    Kornfält, R.2    Aili, M.3    Andersson, D.4    Westgren, U.5    Schaedel, C.6
  • 15
    • 0017148259 scopus 로고
    • A general method for isolation of high molecular weight DNA from eukaryotes
    • 15. Blin N, Stafford D. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 1976;3:2303-8.
    • (1976) Nucleic Acids Res , vol.3 , pp. 2303-2308
    • Blin, N.1    Stafford, D.2
  • 17
    • 0031895104 scopus 로고    scopus 로고
    • Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel
    • 17. Ludwig M, Bolkenius U, Wickert L, Bidlingmaier F. Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel. J Steroid Biochem Molec Biol 1998;64:227-30.
    • (1998) J Steroid Biochem Molec Biol , vol.64 , pp. 227-230
    • Ludwig, M.1    Bolkenius, U.2    Wickert, L.3    Bidlingmaier, F.4
  • 18
    • 0031775471 scopus 로고    scopus 로고
    • Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel
    • 18. Ludwig M, Bolkenius U, Wickert L, Marynen P, Bidlingmaier F. Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel. Hum Genet 1998;102:576-81.
    • (1998) Hum Genet , vol.102 , pp. 576-581
    • Ludwig, M.1    Bolkenius, U.2    Wickert, L.3    Marynen, P.4    Bidlingmaier, F.5
  • 19
    • 0023275376 scopus 로고
    • Measurement of nasal potential difference in adult cystic Fibrosis, Young's syndrome, and bronchiectasis
    • 19. Alton EW, Hay JG, Munro C, Geddes DM. Measurement of nasal potential difference in adult cystic Fibrosis, Young's syndrome, and bronchiectasis. Thorax 1987;2:815-7.
    • (1987) Thorax , vol.2 , pp. 815-817
    • Alton, E.W.1    Hay, J.G.2    Munro, C.3    Geddes, D.M.4
  • 20
    • 9244225677 scopus 로고
    • A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
    • 20. Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959;23:545-9.
    • (1959) Pediatrics , vol.23 , pp. 545-549
    • Gibson, L.E.1    Cooke, R.E.2
  • 21
    • 0027940537 scopus 로고
    • Physiological and molecular aspects of mineralocorticoid receptor action in pseudohypoaldosteronism: A responsiveness test and therapy
    • 21. Arai K, Tsigows 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;79:1019-23.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1019-1023
    • Arai, K.1    Tsigows, C.2    Suzuki, Y.3    Irony, I.4    Karl, M.5    Listwak, S.6
  • 22
    • 0031412321 scopus 로고    scopus 로고
    • Early effect of aldosterone on the rate of synthesis of the epithelial sodium channel α subunit in A6 renal cells
    • 22. May A, Puoti A, Gaeggeler HP, Horisberger JD, Rossier BC. Early effect of aldosterone on the rate of synthesis of the epithelial sodium channel α subunit in A6 renal cells. J Am Soc Nephrol 1997;8:1813-22.
    • (1997) J Am Soc Nephrol , vol.8 , pp. 1813-1822
    • May, A.1    Puoti, A.2    Gaeggeler, H.P.3    Horisberger, J.D.4    Rossier, B.C.5
  • 23
    • 0031416783 scopus 로고    scopus 로고
    • Regulation of a cloned epithelial Na+ channel by its b- and g-subunits
    • 23. Awayda M, Tousson A, Benos D. Regulation of a cloned epithelial Na+ channel by its b- and g-subunits. Am J Physiol 1997;363:C1889-99.
    • (1997) Am J Physiol , vol.363
    • Awayda, M.1    Tousson, A.2    Benos, D.3
  • 24
    • 0344743590 scopus 로고    scopus 로고
    • A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel
    • 24. Grunder S, Firsov D, Chang S, Fowler Jaeger N, Gautschi I, Schild L, et al. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. EMBO J 1997;16:899-907.
    • (1997) EMBO J , vol.16 , pp. 899-907
    • Grunder, S.1    Firsov, D.2    Chang, S.3    Fowler Jaeger, N.4    Gautschi, I.5    Schild, L.6
  • 25
    • 0029935712 scopus 로고    scopus 로고
    • Early death due to defective neonatal lung liquid clearance in αENaC-deficient mice
    • 25. Hummler E, Barker P, Gatzy J, Beermann F, Verdumo C, Schmidt A, et al. Early death due to defective neonatal lung liquid clearance in αENaC-deficient mice. Nature Genet 1996;12:325-8.
    • (1996) Nature Genet , vol.12 , pp. 325-328
    • Hummler, E.1    Barker, P.2    Gatzy, J.3    Beermann, F.4    Verdumo, C.5    Schmidt, A.6
  • 26
    • 0033574002 scopus 로고    scopus 로고
    • Disruption of the β subunit of the epithelial Na+ channel in mice: Hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype
    • 26. McDonald F, Yang B, Hrstka RF, Drummond HA, Tarr DE, McCray PB, et al. Disruption of the β subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. Proc Natl Acad Sci USA 1999;96:1727-31.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 1727-1731
    • McDonald, F.1    Yang, B.2    Hrstka, R.F.3    Drummond, H.A.4    Tarr, D.E.5    McCray, P.B.6
  • 27
    • 0032531425 scopus 로고    scopus 로고
    • Role of γENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaption and pseudohvpoaldosteronism
    • 27. Barker PM, Nguyen MS, Gatzy JT, Grubb B, Norman H, Hummler E, et al. Role of γENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaption and pseudohvpoaldosteronism. J Clin Invest 1998;102:1634-40.
    • (1998) J Clin Invest , vol.102 , pp. 1634-1640
    • Barker, P.M.1    Nguyen, M.S.2    Gatzy, J.T.3    Grubb, B.4    Norman, H.5    Hummler, E.6
  • 28
    • 0029912194 scopus 로고    scopus 로고
    • Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator
    • 28. Ismailov I, Awayda M, Jovov B, Berdiev B, Fuller C, Dedman J, et al. Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator. J Biol Chem 1996;271:4725-32.
    • (1996) J Biol Chem , vol.271 , pp. 4725-4732
    • Ismailov, I.1    Awayda, M.2    Jovov, B.3    Berdiev, B.4    Fuller, C.5    Dedman, J.6
  • 29
    • 0031024767 scopus 로고    scopus 로고
    • Inhibition of epithelial Na+ currents by intracellular domains of the cystic fibrosis transmembrane conductance regulator
    • 29. Kunzelman K, Kiser G, Schreiber R, Riordan J. Inhibition of epithelial Na+ currents by intracellular domains of the cystic fibrosis transmembrane conductance regulator. FEBS Lett 1997; 400:341-4.
    • (1997) FEBS Lett , vol.400 , pp. 341-344
    • Kunzelman, K.1    Kiser, G.2    Schreiber, R.3    Riordan, J.4
  • 30
    • 0030970422 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator inverts protein kinase A-mediated regulation of epithelial sodium channel single channel kinetics
    • 30. Stutts J, Rossier B, Boucher R. Cystic fibrosis transmembrane conductance regulator inverts protein kinase A-mediated regulation of epithelial sodium channel single channel kinetics. J Biol Chem 1997;272:14037-40.
    • (1997) J Biol Chem , vol.272 , pp. 14037-14040
    • Stutts, J.1    Rossier, B.2    Boucher, R.3
  • 31
    • 0029870085 scopus 로고    scopus 로고
    • Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid
    • 31. Smith J, Travis S, Greenberg E, Welsh M. Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid. Cell 1996;85:229-36.
    • (1996) Cell , vol.85 , pp. 229-236
    • Smith, J.1    Travis, S.2    Greenberg, E.3    Welsh, M.4
  • 32
    • 0030814886 scopus 로고    scopus 로고
    • Ion composition of airway surface liquid of patients with cystic Fibrosis as compared with normal and disease-control subjects
    • 32. Knowles M, Robinson J, Wood R, Pue C, Mentz W, Wager G, et al. Ion composition of airway surface liquid of patients with cystic Fibrosis as compared with normal and disease-control subjects. J Clin Invest 1997;100:2588-95.
    • (1997) J Clin Invest , vol.100 , pp. 2588-2595
    • Knowles, M.1    Robinson, J.2    Wood, R.3    Pue, C.4    Mentz, W.5    Wager, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.