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Results: 1 to 20 of 865

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.

PMID:
14531790
[PubMed - indexed for MEDLINE]
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.

PMID:
12471200
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
14569098
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
15253706
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
15086896
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
17245395
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.

Calado J, Gaspar A, Clemente C, Rueff J.

BMC Med Genet. 2005 Jan 27;6:5.

PMID:
15673476
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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;68(4):1472-82.

PMID:
16164624
[PubMed - indexed for MEDLINE]
14.

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

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.

Kidney Int. 2006 Sep;70(6):1155-69. Epub 2006 Aug 2.

PMID:
16883323
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
21868615
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

Defective intracellular trafficking of uromodulin mutant isoforms.

Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L.

Traffic. 2006 Nov;7(11):1567-79. Epub 2006 Sep 30.

PMID:
17010121
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
18310901
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
Free Article
20.

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.

PMID:
23826568
[PubMed - indexed for MEDLINE]
Free PMC Article
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