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Journal Abstract Search

166 related items for PubMed ID: 31044551

  • 1. A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.
    Sakoh T, Sekine A, Mori T, Mizuno H, Kawada M, Hiramatsu R, Hasegawa E, Hayami N, Yamanouchi M, Suwabe T, Sawa N, Ubara Y, Fujimaru T, Sohara E, Shinichi U, Hoshino J, Takaichi K.
    Mol Genet Genomic Med; 2019 Jun; 7(6):e705. PubMed ID: 31044551
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  • 7. A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene.
    Gong H, Tang Z, Yang Y, Sun L, Zhang W, Wang W, Cui B, Ning G.
    Endocrine; 2008 Jun; 33(3):230-4. PubMed ID: 19016006
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  • 8. Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations.
    Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J.
    Curr Opin Nephrol Hypertens; 2012 Jan; 21(1):39-45. PubMed ID: 22080857
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  • 11. Classification of pseudohypoaldosteronism type II as type IV renal tubular acidosis: results of a literature review.
    Adachi M, Motegi S, Nagahara K, Ochi A, Toyoda J, Mizuno K.
    Endocr J; 2023 Jul 28; 70(7):723-729. PubMed ID: 37081692
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  • 12. An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II).
    Chowdhury JA, Liu CH, Zuber AM, O'Shaughnessy KM.
    Clin Sci (Lond); 2013 Jun 28; 124(12):701-8. PubMed ID: 23336180
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  • 13. A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis.
    López-Cayuqueo KI, Chavez-Canales M, Pillot A, Houillier P, Jayat M, Baraka-Vidot J, Trepiccione F, Baudrie V, Büsst C, Soukaseum C, Kumai Y, Jeunemaître X, Hadchouel J, Eladari D, Chambrey R.
    Kidney Int; 2018 Sep 28; 94(3):514-523. PubMed ID: 30146013
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  • 14. Identification of a novel KLHL3-interacting motif in the C-terminal region of WNK4.
    Wang L, Wu G, Peng JB.
    Biochem Biophys Res Commun; 2023 Aug 30; 670():87-93. PubMed ID: 37285722
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  • 15. WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3.
    Susa K, Sohara E, Takahashi D, Okado T, Rai T, Uchida S.
    Biochem Biophys Res Commun; 2017 Sep 23; 491(3):727-732. PubMed ID: 28743496
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  • 16. Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain.
    Lin CM, Cheng CJ, Yang SS, Tseng MH, Yen MT, Sung CC, Lin SH.
    FASEB J; 2019 Jan 23; 33(1):1051-1061. PubMed ID: 30148674
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  • 17. Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population.
    Kokubo Y, Kamide K, Inamoto N, Tanaka C, Banno M, Takiuchi S, Kawano Y, Tomoike H, Miyata T.
    J Hum Genet; 2004 Jan 23; 49(9):507-515. PubMed ID: 15309683
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  • 19. Disease-causing mutations in the acidic motif of WNK4 impair the sensitivity of WNK4 kinase to calcium ions.
    Na T, Wu G, Peng JB.
    Biochem Biophys Res Commun; 2012 Mar 09; 419(2):293-8. PubMed ID: 22342722
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  • 20. Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).
    Glover M, Ware JS, Henry A, Wolley M, Walsh R, Wain LV, Xu S, Van't Hoff WG, Tobin MD, Hall IP, Cook S, Gordon RD, Stowasser M, O'Shaughnessy KM.
    Clin Sci (Lond); 2014 May 09; 126(10):721-6. PubMed ID: 24266877
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