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Volumn 32, Issue 1, 1998, Pages 129-137

Genetic analysis of the β subunit of the epithelial Na+ channel in essential hypertension

Author keywords

Genetics; Hypertension, essential; Oocytes; Polymorphism, single stranded conformational; Sodium channels

Indexed keywords

SODIUM CHANNEL;

EID: 0031927840     PISSN: 0194911X     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.HYP.32.1.129     Document Type: Article
Times cited : (110)

References (29)
  • 3
    • 0029586683 scopus 로고
    • A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity
    • Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson WC, Rossier BC, Lifton RP. A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci U S A. 1995;92:11495-11499.
    • (1995) Proc Natl Acad Sci u s a , vol.92 , pp. 11495-11499
    • Hansson, J.H.1    Schild, L.2    Lu, Y.3    Wilson, T.A.4    Gautschi, I.5    Shimkets, R.6    Nelson, W.C.7    Rossier, B.C.8    Lifton, R.P.9
  • 4
    • 0029918734 scopus 로고    scopus 로고
    • Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene
    • Tamura H, Schild L, Enomoto N, Matsui N, Marumo F, Rossier C, Sasaki S. Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. J Clin Invest. 1996;97:1780-1784.
    • (1996) J Clin Invest. , vol.97 , pp. 1780-1784
    • Tamura, H.1    Schild, L.2    Enomoto, N.3    Matsui, N.4    Marumo, F.5    Rossier, C.6    Sasaki, S.7
  • 8
    • 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
    • Strautnieks SS, Thompson RJ, Gardiner RM, Chung E. A novel splice-site mutation in the γ 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    Chung, E.4
  • 9
    • 0000100490 scopus 로고
    • Blood pressure and sodium intake
    • Laragh JH, Brenner BM, eds. New York, NY: Raven Press Publishers
    • Simpson FO. Blood pressure and sodium intake. In: Laragh JH, Brenner BM, eds. Hypertension: Pathophysiology, Diagnosis and Management. 2nd ed. New York, NY: Raven Press Publishers; 1995:273-281.
    • (1995) Hypertension: Pathophysiology, Diagnosis and Management. 2nd Ed. , pp. 273-281
    • Simpson, F.O.1
  • 10
    • 0027933569 scopus 로고
    • HYPERGENE: A clinical and genetic database for genetic analysis in human hypertension
    • Charru AJ, Soubrier F, Corvol P, Chatellier G. HYPERGENE: a clinical and genetic database for genetic analysis in human hypertension. J Hypertens. 1994;12:981-985.
    • (1994) J Hypertens. , vol.12 , pp. 981-985
    • Charru, A.J.1    Soubrier, F.2    Corvol, P.3    Chatellier, G.4
  • 12
    • 0024962982 scopus 로고
    • Progrès récent dans l'exploration clinique du système rénine: Valeurs récentes et conditions de validité
    • Plouin PF, Chatellier G, Guyenne T-T, Vincent N, Corvol P. Progrès récent dans l'exploration clinique du système rénine: valeurs récentes et conditions de validité. Presse Med. 1989;18:917-921.
    • (1989) Presse Med. , vol.18 , pp. 917-921
    • Plouin, P.F.1    Chatellier, G.2    Guyenne, T.-T.3    Vincent, N.4    Corvol, P.5
  • 13
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 1989;5:874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 14
    • 0029097865 scopus 로고
    • Cloning, chromosomal localization and physical linkage of the β and γ subunits of the human epithelial amiloride-sensitive sodium channel
    • Voilley N, Bassilana F, Mignon C, Merscher S, Mattéi M-G, Carle GF, Lazdunski, M, Barbry P. Cloning, chromosomal localization and physical linkage of the β and γ subunits of the human epithelial amiloride-sensitive sodium channel. Genomics. 1995;28:560-565.
    • (1995) Genomics , vol.28 , pp. 560-565
    • Voilley, N.1    Bassilana, F.2    Mignon, C.3    Merscher, S.4    Mattéi, M.-G.5    Carle, G.F.6    Lazdunski, M.7    Barbry, P.8
  • 17
    • 0028050545 scopus 로고
    • Direct sequencing of PCR products in agarose gel slices
    • Khorona S, Gagel RF, Cote GJ. Direct sequencing of PCR products in agarose gel slices. Nucleic Acids Res. 1994;22:3425-3426.
    • (1994) Nucleic Acids Res. , vol.22 , pp. 3425-3426
    • Khorona, S.1    Gagel, R.F.2    Cote, G.J.3
  • 19
    • 0029962615 scopus 로고    scopus 로고
    • Genomic organization and the 5′ flanking region of the γ subunit of the human amiloride-sensitive epithelial Na channel
    • Thomas CP, Doggett NA, Fisher R, Stokes JB. Genomic organization and the 5′ flanking region of the γ subunit of the human amiloride-sensitive epithelial Na channel. J Biol Chem. 1996;42:26062-26066.
    • (1996) J Biol Chem. , vol.42 , pp. 26062-26066
    • Thomas, C.P.1    Doggett, N.A.2    Fisher, R.3    Stokes, J.B.4
  • 20
    • 0030444762 scopus 로고    scopus 로고
    • Lack of mutations in epithelial sodium channel β-subunit gene in human subjects with hypertension
    • Chang H, Fujita T. Lack of mutations in epithelial sodium channel β-subunit gene in human subjects with hypertension. J Hypertens. 1996; 14:1417-1419.
    • (1996) J Hypertens. , vol.14 , pp. 1417-1419
    • Chang, H.1    Fujita, T.2
  • 21
    • 0031017054 scopus 로고    scopus 로고
    • Identification of amino acid residues in the α, β and γ subunits of the epithelial sodium channel (ENaC) involved in amiloride block and ion permeation
    • Schild L, Schneeberger E, Gautschi I. Identification of amino acid residues in the α, β and γ subunits of the epithelial sodium channel (ENaC) involved in amiloride block and ion permeation. J Gen Physiol. 1997;109:15-26.
    • (1997) J Gen Physiol. , vol.109 , pp. 15-26
    • Schild, L.1    Schneeberger, E.2    Gautschi, I.3
  • 23
    • 0017748446 scopus 로고
    • Differences in response to Na administration in normotensive black and white subjects
    • Luft FC, Grim CE, Higgins JC, Weinberger MH. Differences in response to Na administration in normotensive black and white subjects. J Lab Clin Med. 1977;90:555-562.
    • (1977) J Lab Clin Med. , vol.90 , pp. 555-562
    • Luft, F.C.1    Grim, C.E.2    Higgins, J.C.3    Weinberger, M.H.4
  • 24
    • 0028154726 scopus 로고
    • Liddle's syndrome revisited: A disorder of sodium reabsorption in the distal tubule
    • Botero-Velez M, Curtis JJ, Warnock DG. Liddle's syndrome revisited: a disorder of sodium reabsorption in the distal tubule. N Engl J Med. 1994;330:178-181.
    • (1994) N Engl J Med. , vol.330 , pp. 178-181
    • Botero-Velez, M.1    Curtis, J.J.2    Warnock, D.G.3
  • 25
    • 0029948974 scopus 로고    scopus 로고
    • Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome
    • Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC. Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J. 1996;15:2381-2387.
    • (1996) EMBO J. , vol.15 , pp. 2381-2387
    • Schild, L.1    Lu, Y.2    Gautschi, I.3    Schneeberger, E.4    Lifton, R.P.5    Rossier, B.C.6
  • 27
    • 0030667948 scopus 로고    scopus 로고
    • Expression of the amiloride-sensitive sodium channel β subunit gene in human B lymphocytes
    • Oh Y, Bubien JK, Warnock DG. Expression of the amiloride-sensitive sodium channel β subunit gene in human B lymphocytes. J Am Soc Nephrol. 1997;8:126-129.
    • (1997) J Am Soc Nephrol. , vol.8 , pp. 126-129
    • Oh, Y.1    Bubien, J.K.2    Warnock, D.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.