183 related articles for article (PubMed ID: 29424336)
21. 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]
22. Autosomal dominant tubulointerstitial kidney disease: A review.
Živná M; Kidd KO; Barešová V; Hůlková H; Kmoch S; Bleyer AJ
Am J Med Genet C Semin Med Genet; 2022 Sep; 190(3):309-324. PubMed ID: 36250282
[TBL] [Abstract][Full Text] [Related]
23. Uromodulin-related autosomal-dominant tubulointerstitial kidney disease-pathogenetic insights based on a case.
Reindl J; Gröne HJ; Wolf G; Busch M
Clin Kidney J; 2019 Apr; 12(2):172-179. PubMed ID: 30976393
[TBL] [Abstract][Full Text] [Related]
24. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Olinger E; Hofmann P; Kidd K; Dufour I; Belge H; Schaeffer C; Kipp A; Bonny O; Deltas C; Demoulin N; Fehr T; Fuster DG; Gale DP; Goffin E; Hodaňová K; Huynh-Do U; Kistler A; Morelle J; Papagregoriou G; Pirson Y; Sandford R; Sayer JA; Torra R; Venzin C; Venzin R; Vogt B; Živná M; Greka A; Dahan K; Rampoldi L; Kmoch S; Bleyer AJ; Devuyst O
Kidney Int; 2020 Sep; 98(3):717-731. PubMed ID: 32450155
[TBL] [Abstract][Full Text] [Related]
25. 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. PubMed ID: 22034507
[TBL] [Abstract][Full Text] [Related]
26. 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; 32(12):1994-1999. PubMed ID: 28605509
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Autosomal Dominant Tubulointerstitial Kidney Disease.
Bleyer AJ; Kidd K; Živná M; Kmoch S
Adv Chronic Kidney Dis; 2017 Mar; 24(2):86-93. PubMed ID: 28284384
[TBL] [Abstract][Full Text] [Related]
29. Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
Schiano G; Lake J; Mariniello M; Schaeffer C; Harvent M; Rampoldi L; Olinger E; Devuyst O
EMBO Mol Med; 2023 Dec; 15(12):e18242. PubMed ID: 37885358
[TBL] [Abstract][Full Text] [Related]
30. From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.
Venkat-Raman G; Gast C; Marinaki A; Fairbanks L
Pediatr Nephrol; 2016 Nov; 31(11):2035-42. PubMed ID: 26872483
[TBL] [Abstract][Full Text] [Related]
31. 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. PubMed ID: 23723338
[TBL] [Abstract][Full Text] [Related]
32. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.
Bleyer AJ; Wolf MT; Kidd KO; Zivna M; Kmoch S
Pediatr Nephrol; 2022 May; 37(5):933-946. PubMed ID: 34021396
[TBL] [Abstract][Full Text] [Related]
33. Childhood course of renal insufficiency in a family with a uromodulin gene mutation.
Schäffer P; Gombos E; Meichelbeck K; Kiss A; Hart PS; Bleyer AJ
Pediatr Nephrol; 2010 Jul; 25(7):1355-60. PubMed ID: 20151160
[TBL] [Abstract][Full Text] [Related]
34. Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.
Cormican S; Connaughton DM; Kennedy C; Murray S; Živná M; Kmoch S; Fennelly NK; O'Kelly P; Benson KA; Conlon ET; Cavalleri G; Foley C; Doyle B; Dorman A; Little MA; Lavin P; Kidd K; Bleyer AJ; Conlon PJ
Ren Fail; 2019 Nov; 41(1):832-841. PubMed ID: 31509055
[No Abstract] [Full Text] [Related]
35. Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.
Takemasa Y; Hirano D; Kawakami Y; Tokunaga A; Umeda C; Miwa S; Kakegawa D; Ito A; Ida H
CEN Case Rep; 2021 Aug; 10(3):426-430. PubMed ID: 33616882
[TBL] [Abstract][Full Text] [Related]
36. Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease.
Prejbisz A; Sellin L; Szwench-Pietrasz E; Woznowski M; Michałowska I; Blondin D; Sajnaga D; Epplen JT; Litwin M; Dekomien G; Januszewicz M; Helmchen U; Matuszkiewicz-Rowińska J; Adamczak M; Więcek A; Januszewicz A; Rump LC
Kidney Int; 2015 Jul; 88(1):160-6. PubMed ID: 25671765
[TBL] [Abstract][Full Text] [Related]
37. Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.
Trudu M; Schaeffer C; Riba M; Ikehata M; Brambilla P; Messa P; Martinelli-Boneschi F; Rastaldi MP; Rampoldi L
Sci Rep; 2017 Aug; 7(1):7383. PubMed ID: 28785050
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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; 6():5. PubMed ID: 15673476
[TBL] [Abstract][Full Text] [Related]
40. 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; 22(20):4148-63. PubMed ID: 23748428
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]