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Items: 1 to 20 of 768

2.

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.

3.

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.

4.

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;25(9-11):1295-300.

PMID:
17065110
5.

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;42(2):E20-6.

PMID:
12900848
6.

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 1;531(2):363-9. doi: 10.1016/j.gene.2013.08.041. Epub 2013 Aug 27.

PMID:
23988501
7.

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.

8.
9.

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.

10.

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Bollée G, Dahan K, Flamant M, Morinière V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B.

Clin J Am Soc Nephrol. 2011 Oct;6(10):2429-38. doi: 10.2215/CJN.01220211. Epub 2011 Aug 25.

11.

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. Epub 2007 Jan 24.

12.

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.

Kudo E, Kamatani N, Tezuka O, Taniguchi A, Yamanaka H, Yabe S, Osabe D, Shinohara S, Nomura K, Segawa M, Miyamoto T, Moritani M, Kunika K, Itakura M.

Kidney Int. 2004 May;65(5):1589-97.

13.

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

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.

Hum Mol Genet. 2003 Dec 15;12(24):3369-84. Epub 2003 Oct 21.

PMID:
14570709
14.

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. doi: 10.1159/000339752. Epub 2012 Jul 7.

PMID:
22776760
15.

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;31(3):405-11.

16.

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;33(4):293-6. doi: 10.3343/alm.2013.33.4.293. Epub 2013 Jun 24.

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;25(11):1680-2. doi: 10.3346/jkms.2010.25.11.1680. Epub 2010 Oct 26.

18.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
19.

Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12.

Pirulli D, Puzzer D, De Fusco M, Crovella S, Amoroso A, Scolari F, Viola BF, Maiorca R, Caridi G, Savoldi S, Ghiggeri G, Casari G.

J Nephrol. 2001 Sep-Oct;14(5):392-6.

PMID:
11730273
20.

Hereditary hyperuricemia and renal disease.

Cameron JS, Simmonds HA.

Semin Nephrol. 2005 Jan;25(1):9-18. Review.

PMID:
15660329

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