Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 495

1.

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.

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.

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S.

Eur J Hum Genet. 2003 Feb;11(2):145-54.

5.

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.

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.

7.

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
8.

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

Stibůrková B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S.

Am J Hum Genet. 2000 Jun;66(6):1989-94. Epub 2000 Apr 25.

9.

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.

10.

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.

11.

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.

12.

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
13.

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, Cosyns JP, Hildebrandt F, Verellen-Dumoulin C, Pirson Y.

J Am Soc Nephrol. 2001 Nov;12(11):2348-57.

14.

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.

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.
17.

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.

18.

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.

19.

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.

20.

[Familial juvenile hyperuricemic nephropathy (FJHN)].

Kudo E, Itakura M.

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

PMID:
18409515
Items per page

Supplemental Content

Write to the Help Desk