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Journal Abstract Search

282 related items for PubMed ID: 15983957

  • 1. 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; 46(1):52-7. PubMed ID: 15983957
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  • 2. 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. 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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  • 4. 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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  • 9. 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
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  • 11. 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
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  • 12. Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation.
    Puig JG, Prior C, Martínez-Ara J, Torres RJ.
    Nucleosides Nucleotides Nucleic Acids; 2006 Nov 01; 25(9-11):1295-300. PubMed ID: 17065110
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  • 14. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
    Hodanová K, Majewski J, Kublová M, Vyletal P, Kalbácová M, Stibůrková B, Hůlková H, Chagnon YC, Lanouette CM, Marinaki A, Fryns JP, Venkat-Raman G, Kmoch S.
    Kidney Int; 2005 Oct 01; 68(4):1472-82. PubMed ID: 16164624
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  • 17. 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 Oct 01; 36(2):114-20. PubMed ID: 22776760
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