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Items: 1 to 20 of 102

1.

Childhood course of renal insufficiency in a family with a uromodulin gene mutation.

Schäffer P, Gombos E, Meichelbeck K, Kiss A, Hart PS, Bleyer AJ.

Pediatr Nephrol. 2010 Jul;25(7):1355-60. doi: 10.1007/s00467-009-1436-y. Epub 2010 Feb 12.

2.

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
3.

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.

4.

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;64(1):36-42.

5.

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
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.

Uromodulin-associated kidney disease.

Bleyer AJ, Zivná M, Kmoch S.

Nephron Clin Pract. 2011;118(1):c31-6. doi: 10.1159/000320889. Epub 2010 Nov 11. Review.

PMID:
21071970
8.

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.

9.

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.

11.

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
12.

Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy.

Lhotta K, Gehringer A, Jennings P, Kronenberg F, Brezinka C, Andersone I, Strazdins V.

Clin Nephrol. 2009 Jan;71(1):80-3.

PMID:
19203555
13.

Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein.

Bleyer AJ, Hart TC, Shihabi Z, Robins V, Hoyer JR.

Kidney Int. 2004 Sep;66(3):974-7.

14.

Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease.

Prejbisz A, Sellin L, Szwench-Pietrasz E, Woznowski M, Michałowska I, Blondin D, Sajnaga D, Epplen JT, Litwin M, Dekomien G, Januszewicz M, Helmchen U, Matuszkiewicz-Rowińska J, Adamczak M, Więcek A, Januszewicz A, Rump LC.

Kidney Int. 2015 Jul;88(1):160-6. doi: 10.1038/ki.2015.2. Epub 2015 Feb 11.

PMID:
25671765
15.

[Familial juvenile hyperuricemic nephropathy (FJHN)].

Kudo E, Itakura M.

Nihon Rinsho. 2008 Apr;66(4):683-6. Review. Japanese.

PMID:
18409515
16.

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.

PMID:
15575003
17.

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.

18.

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.

19.

[Uromodulin mutation and hyperuricemia].

Kudo E, Itakura M.

Nihon Rinsho. 2008 Apr;66(4):778-83. Review. Japanese.

PMID:
18409531
20.

Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.

Raffler G, Zitt E, Sprenger-Mähr H, Nagel M, Lhotta K.

Wien Klin Wochenschr. 2016 Apr;128(7-8):291-4. doi: 10.1007/s00508-015-0948-7. Epub 2016 Jan 25.

PMID:
26810206

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