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253 related items for PubMed ID: 19344079

  • 1. 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; 22(1):85-9. PubMed ID: 19344079
    [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. 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; 90(1):340-4. PubMed ID: 15483078
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Mutation analysis of SCNN1B in a family with Liddle's syndrome.
    Wang W, Zhou W, Jiang L, Cui B, Ye L, Su T, Wang J, Li X, Ning G.
    Endocrine; 2006 Jun; 29(3):385-90. PubMed ID: 16943574
    [Abstract] [Full Text] [Related]

  • 6. Molecular genetics of Liddle's syndrome.
    Yang KQ, Xiao Y, Tian T, Gao LG, Zhou XL.
    Clin Chim Acta; 2014 Sep 25; 436():202-6. PubMed ID: 24882431
    [Abstract] [Full Text] [Related]

  • 7. 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 25; 15(10):1091-100. PubMed ID: 9350583
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 125(8):1401-4. PubMed ID: 22613642
    [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 25; 83(6):2210-3. PubMed ID: 9626162
    [Abstract] [Full Text] [Related]

  • 10. 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 25; 26(5):921-7. PubMed ID: 18398334
    [Abstract] [Full Text] [Related]

  • 11. [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 25; 40(6):390-3. PubMed ID: 11798604
    [Abstract] [Full Text] [Related]

  • 12. Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension.
    Melander O, Orho M, Fagerudd J, Bengtsson K, Groop PH, Mattiasson I, Groop L, Hulthén UL.
    Hypertension; 1998 May 25; 31(5):1118-24. PubMed ID: 9576123
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 15; 23(6):471-8. PubMed ID: 11478429
    [Abstract] [Full Text] [Related]

  • 15. Liddle's syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene.
    Freercks R, Meldau S, Jones E, Ensor J, Weimers-Willard C, Rayner B.
    Cardiovasc J Afr; 2017 Sep 23; 28(4):e4-e6. PubMed ID: 29144530
    [Abstract] [Full Text] [Related]

  • 16. 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 23; 37(3):499-504. PubMed ID: 11228173
    [Abstract] [Full Text] [Related]

  • 17. The importance of genetic counseling and genetic screening: a case report of a 16-year-old boy with resistant hypertension and severe hypokalemia.
    Kuang ZM, Wang Y, Wang JJ, Liu JH, Zeng R, Zhou Q, Yu ZQ, Jiang L.
    J Am Soc Hypertens; 2017 Mar 23; 11(3):136-139. PubMed ID: 28236585
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome.
    Staub O, Dho S, Henry P, Correa J, Ishikawa T, McGlade J, Rotin D.
    EMBO J; 1996 May 15; 15(10):2371-80. PubMed ID: 8665844
    [Abstract] [Full Text] [Related]

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