Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 129

1.

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.

Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA.

Nephrol Dial Transplant. 2017 Dec 1;32(12):1994-1999. doi: 10.1093/ndt/gfx066.

2.

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.

Lin Z, Yang J, Liu H, Cai D, An Z, Yu Y, Chen T.

Ren Fail. 2018 Nov;40(1):146-151. doi: 10.1080/0886022X.2018.1450757. Review.

3.

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
4.

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.

Satanovskij R, Bader A, Block M, Herbst V, Schlumberger W, Haack T, Nockher WA, Heemann U, Renders L, Schmaderer C, Angermann S, Wen M, Meitinger T, Scherberich J, Steubl D.

Clin Biochem. 2017 Feb;50(3):155-158. doi: 10.1016/j.clinbiochem.2016.10.003. Epub 2016 Oct 10.

PMID:
27729211
5.

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
6.

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.

7.

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

Lopes LB, Abreu CC, Souza CF, Guimaraes LER, Silva AA, Aguiar-Alves F, Kidd KO, Kmoch S, Bleyer AJ, Almeida JR.

Braz J Med Biol Res. 2018 Mar 1;51(3):e6560. doi: 10.1590/1414-431X20176560.

8.

Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.

Kemter E, Prueckl P, Sklenak S, Rathkolb B, Habermann FA, Hans W, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Wolf E, Aigner B, Wanke R.

Hum Mol Genet. 2013 Oct 15;22(20):4148-63. doi: 10.1093/hmg/ddt263. Epub 2013 Jun 6.

PMID:
23748428
9.

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.

10.

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O, Olinger E, Rampoldi L.

Nat Rev Nephrol. 2017 Sep;13(9):525-544. doi: 10.1038/nrneph.2017.101. Epub 2017 Aug 7. Review.

PMID:
28781372
11.

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.

12.

Paradoxical response to furosemide in uromodulin-associated kidney disease.

Labriola L, Olinger E, Belge H, Pirson Y, Dahan K, Devuyst O.

Nephrol Dial Transplant. 2015 Feb;30(2):330-5. doi: 10.1093/ndt/gfu389. Epub 2014 Dec 23.

13.

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
14.

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
15.

Wild-type uromodulin prevents NFkB activation in kidney cells, while mutant uromodulin, causing FJHU nephropathy, does not.

Dinour D, Ganon L, Nomy LI, Ron R, Holtzman EJ.

J Nephrol. 2014 Jun;27(3):257-64. doi: 10.1007/s40620-014-0079-7. Epub 2014 Mar 20.

PMID:
24648000
16.

Uromodulin: from monogenic to multifactorial diseases.

Scolari F, Izzi C, Ghiggeri GM.

Nephrol Dial Transplant. 2015 Aug;30(8):1250-6. doi: 10.1093/ndt/gfu300. Epub 2014 Sep 16. Review.

PMID:
25228753
17.

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.

18.

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
19.

Endoplasmic reticulum stress in UMOD-related kidney disease: a human pathologic study.

Adam J, Bollée G, Fougeray S, Noël LH, Antignac C, Knebelman B, Pallet N.

Am J Kidney Dis. 2012 Jan;59(1):117-21. doi: 10.1053/j.ajkd.2011.08.014. Epub 2011 Oct 5.

PMID:
21978600
20.

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-González MA, Arhda N, Garin I, Martínez V, Pérez-Gómez V, Fulladosa X, Arroyo D, Martínez-Vea A, Espinosa M, Ballarín J, Ars E, Torra R.

Am J Kidney Dis. 2018 Sep;72(3):411-418. doi: 10.1053/j.ajkd.2018.03.019. Epub 2018 May 18.

PMID:
29784615

Supplemental Content

Support Center