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251 related items for PubMed ID: 11228173

  • 1. 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; 37(3):499-504. PubMed ID: 11228173
    [Abstract] [Full Text] [Related]

  • 2. 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; 20(12):2383-90. PubMed ID: 12473862
    [Abstract] [Full Text] [Related]

  • 3. 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; 16(8):1131-5. PubMed ID: 9794716
    [Abstract] [Full Text] [Related]

  • 4. 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; 26(5):921-7. PubMed ID: 18398334
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Epithelial Na+ channel mutants causing Liddle's syndrome retain ability to respond to aldosterone and vasopressin.
    Auberson M, Hoffmann-Pochon N, Vandewalle A, Kellenberger S, Schild L.
    Am J Physiol Renal Physiol; 2003 Sep 20; 285(3):F459-71. PubMed ID: 12759227
    [Abstract] [Full Text] [Related]

  • 7. Vasopressin-stimulated CFTR Cl- currents are increased in the renal collecting duct cells of a mouse model of Liddle's syndrome.
    Chang CT, Bens M, Hummler E, Boulkroun S, Schild L, Teulon J, Rossier BC, Vandewalle A.
    J Physiol; 2005 Jan 01; 562(Pt 1):271-84. PubMed ID: 15513933
    [Abstract] [Full Text] [Related]

  • 8. [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 01; 40(6):390-3. PubMed ID: 11798604
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome.
    Sawathiparnich P, Sumboonnanonda A, Weerakulwattana P, Limwongse C.
    J Pediatr Endocrinol Metab; 2009 Jan 01; 22(1):85-9. PubMed ID: 19344079
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 83(6):2210-3. PubMed ID: 9626162
    [Abstract] [Full Text] [Related]

  • 12. [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]

  • 13. Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
    Furuhashi M, Kitamura K, Adachi M, Miyoshi T, Wakida N, Ura N, Shikano Y, Shinshi Y, Sakamoto K, Hayashi M, Satoh N, Nishitani T, Tomita K, Shimamoto K.
    J Clin Endocrinol Metab; 2005 Jan 15; 90(1):340-4. PubMed ID: 15483078
    [Abstract] [Full Text] [Related]

  • 14. Abnormalities of nasal potential difference measurement in Liddle's syndrome.
    Baker E, Jeunemaitre X, Portal AJ, Grimbert P, Markandu N, Persu A, Corvol P, MacGregor G.
    J Clin Invest; 1998 Jul 01; 102(1):10-4. PubMed ID: 9649551
    [Abstract] [Full Text] [Related]

  • 15. Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage.
    Knight KK, Olson DR, Zhou R, Snyder PM.
    Proc Natl Acad Sci U S A; 2006 Feb 21; 103(8):2805-8. PubMed ID: 16477034
    [Abstract] [Full Text] [Related]

  • 16. A family with liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel.
    Kyuma M, Ura N, Torii T, Takeuchi H, Takizawa H, Kitamura K, Tomita K, Sasaki S, Shimamoto K.
    Clin Exp Hypertens; 2001 Aug 21; 23(6):471-8. PubMed ID: 11478429
    [Abstract] [Full Text] [Related]

  • 17. Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family.
    Wang LP, Gao LG, Zhou XL, Wu HY, Zhang L, Wen D, Li YH, Liu YX, Tian T, Fan XH, Jiang XJ, Zhang HM, Hui RT.
    Chin Med J (Engl); 2012 Apr 21; 125(8):1401-4. PubMed ID: 22613642
    [Abstract] [Full Text] [Related]

  • 18. 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 21; 11(1):76-82. PubMed ID: 7550319
    [Abstract] [Full Text] [Related]

  • 19. Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome.
    Abriel H, Loffing J, Rebhun JF, Pratt JH, Schild L, Horisberger JD, Rotin D, Staub O.
    J Clin Invest; 1999 Mar 21; 103(5):667-73. PubMed ID: 10074483
    [Abstract] [Full Text] [Related]

  • 20. Aldosterone responsiveness of the epithelial sodium channel (ENaC) in colon is increased in a mouse model for Liddle's syndrome.
    Bertog M, Cuffe JE, Pradervand S, Hummler E, Hartner A, Porst M, Hilgers KF, Rossier BC, Korbmacher C.
    J Physiol; 2008 Jan 15; 586(2):459-75. PubMed ID: 18006588
    [Abstract] [Full Text] [Related]

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