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References

These sources were used to develop the Genetics Home Reference gene summary on the UMOD gene.

Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L. Defective intracellular trafficking of uromodulin mutant isoforms. Traffic. 2006 Nov;7(11):1567-79. Epub 2006 Sep 30. PubMed citation
Entrez Gene
Gene Review: UMOD-Associated Kidney Disease
Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002 Dec;39(12):882-92. PubMed citation
Lens XM, Banet JF, Outeda P, Barrio-Lucía V. 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. Am J Kidney Dis. 2005 Jul;46(1):52-7. PubMed citation
OMIM: UROMODULIN
Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet. 2003 Dec 15;12(24):3369-84. Epub 2003 Oct 21. PubMed citation
Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int. 2006 Sep;70(6):1155-69. Epub 2006 Aug 2. PubMed citation
Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Moriničre V, Williams P, Wong W, Rorsman P, Thakker RV. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet. 2009 Aug 15;18(16):2963-74. Epub 2009 May 22. PubMed citation


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