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419 related items for PubMed ID: 7550319

  • 1. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.
    Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP.
    Nat Genet; 1995 Sep; 11(1):76-82. PubMed ID: 7550319
    [Abstract] [Full Text] [Related]

  • 2. 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 BC.
    J Clin Invest; 1996 Apr 01; 97(7):1780-4. PubMed ID: 8601645
    [Abstract] [Full Text] [Related]

  • 3. Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.
    Rossi E, Farnetti E, Debonneville A, Nicoli D, Grasselli C, Regolisti G, Negro A, Perazzoli F, Casali B, Mantero F, Staub O.
    J Hypertens; 2008 May 01; 26(5):921-7. PubMed ID: 18398334
    [Abstract] [Full Text] [Related]

  • 4. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.
    Gründer S, Firsov D, Chang SS, Jaeger NF, Gautschi I, Schild L, Lifton RP, Rossier BC.
    EMBO J; 1997 Mar 03; 16(5):899-907. PubMed ID: 9118951
    [Abstract] [Full Text] [Related]

  • 5. Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.
    Hiltunen TP, Hannila-Handelberg T, Petäjäniemi N, Kantola I, Tikkanen I, Virtamo J, Gautschi I, Schild L, Kontula K.
    J Hypertens; 2002 Dec 03; 20(12):2383-90. PubMed ID: 12473862
    [Abstract] [Full Text] [Related]

  • 6. Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
    Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P.
    J Hypertens; 1997 Oct 03; 15(10):1091-100. PubMed ID: 9350583
    [Abstract] [Full Text] [Related]

  • 7. A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome.
    Wang Y, Zheng Y, Chen J, Wu H, Zheng D, Hui R.
    Clin Endocrinol (Oxf); 2007 Nov 03; 67(5):801-4. PubMed ID: 17634077
    [Abstract] [Full Text] [Related]

  • 8. Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
    Hannila-Handelberg T, Kontula K, Tikkanen I, Tikkanen T, Fyhrquist F, Helin K, Fodstad H, Piippo K, Miettinen HE, Virtamo J, Krusius T, Sarna S, Gautschi I, Schild L, Hiltunen TP.
    BMC Med Genet; 2005 Jan 20; 6():4. PubMed ID: 15661075
    [Abstract] [Full Text] [Related]

  • 9. A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.
    Inoue J, Iwaoka T, Tokunaga H, Takamune K, Naomi S, Araki M, Takahama K, Yamaguchi K, Tomita K.
    J Clin Endocrinol Metab; 1998 Jun 20; 83(6):2210-3. PubMed ID: 9626162
    [Abstract] [Full Text] [Related]

  • 10. [A study of mutation(s) of the epithelial sodium channel gene in a Liddle's syndrome family].
    Ma X, Tian Y, Gao Y, Guo X.
    Zhonghua Nei Ke Za Zhi; 2001 Jun 20; 40(6):390-3. PubMed ID: 11798604
    [Abstract] [Full Text] [Related]

  • 11. Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit.
    Bonny O, Chraibi A, Loffing J, Jaeger NF, Gründer S, Horisberger JD, Rossier BC.
    J Clin Invest; 1999 Oct 20; 104(7):967-74. PubMed ID: 10510337
    [Abstract] [Full Text] [Related]

  • 12. The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism.
    Schild L.
    Nephrologie; 1996 Oct 20; 17(7):395-400. PubMed ID: 8987044
    [Abstract] [Full Text] [Related]

  • 13. [Liddle syndrome].
    Tamura H, Sasaki S.
    Nihon Rinsho; 1996 Mar 20; 54(3):807-11. PubMed ID: 8904241
    [Abstract] [Full Text] [Related]

  • 14. Genetic analysis of the epithelial sodium channel in Liddle's syndrome.
    Uehara Y, Sasaguri M, Kinoshita A, Tsuji E, Kiyose H, Taniguchi H, Noda K, Ideishi M, Inoue J, Tomita K, Arakawa K.
    J Hypertens; 1998 Aug 20; 16(8):1131-5. PubMed ID: 9794716
    [Abstract] [Full Text] [Related]

  • 15. Two sporadic cases of Liddle's syndrome caused by De novo ENaC mutations.
    Yamashita Y, Koga M, Takeda Y, Enomoto N, Uchida S, Hashimoto K, Yamano S, Dohi K, Marumo F, Sasaki S.
    Am J Kidney Dis; 2001 Mar 20; 37(3):499-504. PubMed ID: 11228173
    [Abstract] [Full Text] [Related]

  • 16. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
    Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.
    Clin Endocrinol (Oxf); 2005 May 20; 62(5):547-53. PubMed ID: 15853823
    [Abstract] [Full Text] [Related]

  • 17. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.
    Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR, Ulick S, Milora RV, Findling JW.
    Cell; 1994 Nov 04; 79(3):407-14. PubMed ID: 7954808
    [Abstract] [Full Text] [Related]

  • 18. Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system.
    Kellenberger S, Gautschi I, Rossier BC, Schild L.
    J Clin Invest; 1998 Jun 15; 101(12):2741-50. PubMed ID: 9637708
    [Abstract] [Full Text] [Related]

  • 19. Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits.
    Canessa CM, Schild L, Buell G, Thorens B, Gautschi I, Horisberger JD, Rossier BC.
    Nature; 1994 Feb 03; 367(6462):463-7. PubMed ID: 8107805
    [Abstract] [Full Text] [Related]

  • 20. [Monogenic hypertension].
    Bähr V, Oelkers W, Diederich S.
    Med Klin (Munich); 2003 Apr 15; 98(4):208-17. PubMed ID: 12715144
    [Abstract] [Full Text] [Related]

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