211 related articles for article (PubMed ID: 22776760)
1. 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. PubMed ID: 22776760
[TBL] [Abstract][Full Text] [Related]
2. 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; 531(2):363-9. PubMed ID: 23988501
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23826568
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 29569962
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 14569098
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 21060763
[TBL] [Abstract][Full Text] [Related]
7. Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.
Alaygut D; Torun-Bayram M; Soylu A; Kasap B; Türkmen M; Kavukçu S
Turk J Pediatr; 2013; 55(6):637-40. PubMed ID: 24577984
[TBL] [Abstract][Full Text] [Related]
8. Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families.
Kaminska-Pajak KA; Dyga K; Adamczyk P; Szczepańska M; Zaniew M; Beck B; Tkaczyk M
Ren Fail; 2016 Nov; 38(10):1759-1762. PubMed ID: 27764983
[TBL] [Abstract][Full Text] [Related]
9. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.
Lens XM; Banet JF; Outeda P; Barrio-Lucía V
Am J Kidney Dis; 2005 Jul; 46(1):52-7. PubMed ID: 15983957
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 12471200
[TBL] [Abstract][Full Text] [Related]
11. Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review.
Liang D; Liang S; Zhang M; Gao E; Zhang Z; Jin Y; Xu F; Zeng C
Nephron; 2019; 143(4):282-287. PubMed ID: 31422399
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 17245395
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 15575003
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 24648000
[TBL] [Abstract][Full Text] [Related]
15. UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Turner JJ; Stacey JM; Harding B; Kotanko P; Lhotta K; Puig JG; Roberts I; Torres RJ; Thakker RV
J Clin Endocrinol Metab; 2003 Mar; 88(3):1398-401. PubMed ID: 12629136
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19203555
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 12787393
[TBL] [Abstract][Full Text] [Related]
18. [Familial juvenile hyperuricemic nephropathy].
Hummel A
Nephrol Ther; 2012 Apr; 8(2):117-25. PubMed ID: 22193138
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 21868615
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 15086896
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]