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Journal Abstract Search

169 related items for PubMed ID: 15575003

  • 1. 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; 19(12):3150-4. PubMed ID: 15575003
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  • 3. 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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  • 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 01; 39(12):882-92. PubMed ID: 12471200
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  • 5. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
    Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV.
    Hum Mol Genet; 2009 Aug 15; 18(16):2963-74. PubMed ID: 19465746
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  • 8. 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 15; 88(3):1398-401. PubMed ID: 12629136
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  • 10. 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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  • 13. 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 15; 64(1):36-42. PubMed ID: 12787393
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  • 15. Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.
    Bleyer AJ, Trachtman H, Sandhu J, Gorry MC, Hart TC.
    Am J Kidney Dis; 2003 Aug 15; 42(2):E20-6. PubMed ID: 12900848
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  • 17. 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 15; 25(11):1680-2. PubMed ID: 21060763
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  • 19. 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 15; 25(9-11):1295-300. PubMed ID: 17065110
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  • 20. 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 15; 40(1):146-151. PubMed ID: 29569962
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