Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 131

1.

No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease.

Kemter E, Sklenak S, Rathkolb B, Hrabě de Angelis M, Wolf E, Aigner B, Wanke R.

J Biol Chem. 2014 Apr 11;289(15):10715-26. doi: 10.1074/jbc.M113.537035. Epub 2014 Feb 24.

2.

Uromodulin retention in thick ascending limb of Henle's loop affects SCD1 in neighboring proximal tubule: renal transcriptome studies in mouse models of uromodulin-associated kidney disease.

Horsch M, Beckers J, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Rathkolb B, Wolf E, Aigner B, Kemter E.

PLoS One. 2014 Nov 19;9(11):e113125. doi: 10.1371/journal.pone.0113125. eCollection 2014.

3.

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
4.

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
5.

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
6.

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Bernascone I, Janas S, Ikehata M, Trudu M, Corbelli A, Schaeffer C, Rastaldi MP, Devuyst O, Rampoldi L.

Hum Mol Genet. 2010 Aug 1;19(15):2998-3010. doi: 10.1093/hmg/ddq205. Epub 2010 May 14.

PMID:
20472742
7.

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

Schaeffer C, Merella S, Pasqualetto E, Lazarevic D, Rampoldi L.

PLoS One. 2017 Apr 24;12(4):e0175970. doi: 10.1371/journal.pone.0175970. eCollection 2017.

8.

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
9.

Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice.

Kemter E, Prückl P, Rathkolb B, Micklich K, Adler T, Becker L, Beckers J, Busch DH, Götz AA, Hans W, Horsch M, Ivandic B, Klingenspor M, Klopstock T, Rozman J, Schrewe A, Schulz H, Fuchs H, Gailus-Durner V, Hrabé de Angelis M, Wolf E, Aigner B.

PLoS One. 2013 Oct 24;8(10):e78337. doi: 10.1371/journal.pone.0078337. eCollection 2013.

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.

Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis.

Wolf MT, Wu XR, Huang CL.

Kidney Int. 2013 Jul;84(1):130-7. doi: 10.1038/ki.2013.63. Epub 2013 Mar 6.

12.

A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction.

Kuma A, Tamura M, Ishimatsu N, Miyamoto T, Serino R, Ishimori S, Morisada N, Iijima K, Yamada S, Takeuchi M, Abe H, Otsuji Y.

Intern Med. 2015;54(6):631-5. doi: 10.2169/internalmedicine.54.3151. Epub 2015 Jan 15.

13.

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
14.

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.

Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV.

Hum Mol Genet. 2009 Aug 15;18(16):2963-74. doi: 10.1093/hmg/ddp235. Epub 2009 May 22.

15.

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
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.

Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate.

Choi SW, Ryu OH, Choi SJ, Song IS, Bleyer AJ, Hart TC.

J Am Soc Nephrol. 2005 Oct;16(10):3006-14. Epub 2005 Aug 31.

18.

Association between genotype and phenotype in uromodulin-associated kidney disease.

Moskowitz JL, Piret SE, Lhotta K, Kitzler TM, Tashman AP, Velez E, Thakker RV, Kotanko P.

Clin J Am Soc Nephrol. 2013 Aug;8(8):1349-57. doi: 10.2215/CJN.11151012. Epub 2013 May 30.

19.

Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure.

Smith GD, Robinson C, Stewart AP, Edwards EL, Karet HI, Norden AG, Sandford RN, Karet Frankl FE.

Clin J Am Soc Nephrol. 2011 Dec;6(12):2766-74. doi: 10.2215/CJN.06820711. Epub 2011 Oct 27.

20.

Detection of mutant uromodulin in transgenic mouse harboring a mutant human UMOD gene.

Yasuda M, Kaneko K, Hachisu H, Yamaoka N, Mawatari K, Nakagomi K, Minoura N, Hosoyamada M.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1284-9. doi: 10.1080/15257770.2011.611485. Erratum in: Nucleosides Nucleotides Nucleic Acids. 2012;31(2):157. Kaneko, Kiyoka [corrected to Kaneko, Kiyoko].

PMID:
22132988

Supplemental Content

Support Center