These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 18950917)

  • 1. Immature renal structures associated with a novel UMOD sequence variant.
    Benetti E; Caridi G; Vella MD; Rampoldi L; Ghiggeri GM; Artifoni L; Murer L
    Am J Kidney Dis; 2009 Feb; 53(2):327-31. PubMed ID: 18950917
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. PubMed ID: 14569098
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
    Zaucke F; Boehnlein JM; Steffens S; Polishchuk RS; Rampoldi L; Fischer A; Pasch A; Boehm CW; Baasner A; Attanasio M; Hoppe B; Hopfer H; Beck BB; Sayer JA; Hildebrandt F; Wolf MT
    Hum Mol Genet; 2010 May; 19(10):1985-97. PubMed ID: 20172860
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 12(24):3369-84. PubMed ID: 14570709
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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. PubMed ID: 14531790
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 19(15):2998-3010. PubMed ID: 20472742
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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. PubMed ID: 16164624
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
    Vylet'al P; Hůlková H; Zivná M; Berná L; Novák P; Elleder M; Kmoch S
    J Inherit Metab Dis; 2008 Aug; 31(4):508-17. PubMed ID: 18651238
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Uromodulin storage diseases: clinical aspects and mechanisms.
    Scolari F; Caridi G; Rampoldi L; Tardanico R; Izzi C; Pirulli D; Amoroso A; Casari G; Ghiggeri GM
    Am J Kidney Dis; 2004 Dec; 44(6):987-99. PubMed ID: 15558519
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).
    Wolf MT; Hoskins BE; Beck BB; Hoppe B; Tasic V; Otto EA; Hildebrandt F
    Pediatr Nephrol; 2009 Jan; 24(1):55-60. PubMed ID: 18846391
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.