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Journal Abstract Search

259 related items for PubMed ID: 14531790

  • 1. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
    Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F.
    Kidney Int; 2003 Nov; 64(5):1580-7. PubMed ID: 14531790
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  • 3. 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; 71(6):574-81. PubMed ID: 17245395
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  • 4. 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; 39(12):882-92. PubMed ID: 12471200
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  • 5. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.
    Rezende-Lima W, Parreira KS, García-González M, Riveira E, Banet JF, Lens XM.
    Kidney Int; 2004 Aug; 66(2):558-63. PubMed ID: 15253706
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  • 6. 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; 14(11):2883-93. PubMed ID: 14569098
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  • 14. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
    Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT.
    Hum Mol Genet; 2010 May 15; 19(10):1985-97. PubMed ID: 20172860
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  • 18. Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene.
    Takiue Y, Hosoyamada M, Yokoo T, Kimura M, Shibasaki T.
    Biol Pharm Bull; 2008 Mar 15; 31(3):405-11. PubMed ID: 18310901
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  • 19. 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 15; 33(4):293-6. PubMed ID: 23826568
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  • 20. From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.
    Venkat-Raman G, Gast C, Marinaki A, Fairbanks L.
    Pediatr Nephrol; 2016 Nov 15; 31(11):2035-42. PubMed ID: 26872483
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