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Journal Abstract Search

207 related items for PubMed ID: 22776760

  • 1. Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy.
    Wei X, Xu R, Yang Z, Li Z, Liao Y, Johnson RJ, Yu X, Chen W.
    Am J Nephrol; 2012; 36(2):114-20. PubMed ID: 22776760
    [Abstract] [Full Text] [Related]

  • 2. Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.
    Liu M, Chen Y, Liang Y, Liu Y, Wang S, Hou P, Zhang H, Zhao M.
    Gene; 2013 Dec 01; 531(2):363-9. PubMed ID: 23988501
    [Abstract] [Full Text] [Related]

  • 3. A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.
    Lee MN, Jun JE, Kwon GY, Huh WS, Ki CS.
    Ann Lab Med; 2013 Jul 01; 33(4):293-6. PubMed ID: 23826568
    [Abstract] [Full Text] [Related]

  • 4. A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.
    Lin Z, Yang J, Liu H, Cai D, An Z, Yu Y, Chen T.
    Ren Fail; 2018 Nov 01; 40(1):146-151. PubMed ID: 29569962
    [Abstract] [Full Text] [Related]

  • 5. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
    Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Büchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y.
    J Am Soc Nephrol; 2003 Nov 01; 14(11):2883-93. PubMed ID: 14569098
    [Abstract] [Full Text] [Related]

  • 6. A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.
    Lee DH, Kim JK, Oh SE, Noh JW, Lee YK.
    J Korean Med Sci; 2010 Nov 01; 25(11):1680-2. PubMed ID: 21060763
    [Abstract] [Full Text] [Related]

  • 7. Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.
    Alaygut D, Torun-Bayram M, Soylu A, Kasap B, Türkmen M, Kavukçu S.
    Turk J Pediatr; 2013 Nov 01; 55(6):637-40. PubMed ID: 24577984
    [Abstract] [Full Text] [Related]

  • 8. Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families.
    Kaminska-Pajak KA, Dyga K, Adamczyk P, Szczepańska M, Zaniew M, Beck B, Tkaczyk M.
    Ren Fail; 2016 Nov 01; 38(10):1759-1762. PubMed ID: 27764983
    [Abstract] [Full Text] [Related]

  • 9. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.
    Lens XM, Banet JF, Outeda P, Barrio-Lucía V.
    Am J Kidney Dis; 2005 Jul 01; 46(1):52-7. PubMed ID: 15983957
    [Abstract] [Full Text] [Related]

  • 10. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
    Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ.
    J Med Genet; 2002 Dec 01; 39(12):882-92. PubMed ID: 12471200
    [Abstract] [Full Text] [Related]

  • 11. Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review.
    Liang D, Liang S, Zhang M, Gao E, Zhang Z, Jin Y, Xu F, Zeng C.
    Nephron; 2019 Dec 01; 143(4):282-287. PubMed ID: 31422399
    [Abstract] [Full Text] [Related]

  • 12. The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
    Wolf MT, Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F.
    Kidney Int; 2007 Mar 01; 71(6):574-81. PubMed ID: 17245395
    [Abstract] [Full Text] [Related]

  • 13. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.
    Tinschert S, Ruf N, Bernascone I, Sacherer K, Lamorte G, Neumayer HH, Nürnberg P, Luft FC, Rampoldi L.
    Nephrol Dial Transplant; 2004 Dec 01; 19(12):3150-4. PubMed ID: 15575003
    [Abstract] [Full Text] [Related]

  • 14. Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.
    Gonçalves F, Lisboa-Gonçalves P, Quental R, Fernandes S, Quental S, Michel-Calemard L, Goursaud C, Marques S, Santos J, Tavares I, Oliveira JP.
    Nefrologia (Engl Ed); 2024 Dec 01; 44(4):576-581. PubMed ID: 39216982
    [Abstract] [Full Text] [Related]

  • 15. Wild-type uromodulin prevents NFkB activation in kidney cells, while mutant uromodulin, causing FJHU nephropathy, does not.
    Dinour D, Ganon L, Nomy LI, Ron R, Holtzman EJ.
    J Nephrol; 2014 Jun 01; 27(3):257-64. PubMed ID: 24648000
    [Abstract] [Full Text] [Related]

  • 16. UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
    Turner JJ, Stacey JM, Harding B, Kotanko P, Lhotta K, Puig JG, Roberts I, Torres RJ, Thakker RV.
    J Clin Endocrinol Metab; 2003 Mar 01; 88(3):1398-401. PubMed ID: 12629136
    [Abstract] [Full Text] [Related]

  • 17. Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy.
    Lhotta K, Gehringer A, Jennings P, Kronenberg F, Brezinka C, Andersone I, Strazdins V.
    Clin Nephrol; 2009 Jan 01; 71(1):80-3. PubMed ID: 19203555
    [Abstract] [Full Text] [Related]

  • 18. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene.
    Bleyer AJ, Woodard AS, Shihabi Z, Sandhu J, Zhu H, Satko SG, Weller N, Deterding E, McBride D, Gorry MC, Xu L, Ganier D, Hart TC.
    Kidney Int; 2003 Jul 01; 64(1):36-42. PubMed ID: 12787393
    [Abstract] [Full Text] [Related]

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