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Journal Abstract Search

332 related items for PubMed ID: 27729211

  • 1. 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. PubMed ID: 27729211
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  • 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. PubMed ID: 29569962
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  • 4. 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 Nov; 143(4):282-287. PubMed ID: 31422399
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  • 5. Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.
    Gonçalves F, Lisboa-Gonçalves P, Quental R, Fernandes S, Quental S, Michel-Calemard L, Goursaud C, Marques S, Santos J, Tavares I, Oliveira JP.
    Nefrologia (Engl Ed); 2024 Nov; 44(4):576-581. PubMed ID: 39216982
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  • 7. Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
    Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.
    BMC Nephrol; 2018 Oct 30; 19(1):301. PubMed ID: 30376835
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  • 8. UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
    Yang J, Zhang Y, Zhou J.
    BMC Pediatr; 2019 May 08; 19(1):145. PubMed ID: 31068150
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  • 9. Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?
    Onoe T, Hara S, Yamada K, Zoshima T, Mizushima I, Ito K, Mori T, Daimon S, Muramoto H, Shimizu M, Iguchi A, Kuma A, Ubara Y, Mitobe M, Tsuruta H, Kishimoto N, Imura J, Konoshita T, Kawano M.
    BMC Nephrol; 2021 Jan 04; 22(1):1. PubMed ID: 33397327
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  • 10. 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 04; 59(1):117-21. PubMed ID: 21978600
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  • 11. 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 04; 72(3):411-418. PubMed ID: 29784615
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  • 13. Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease.
    Kim Y, Wang Z, Li C, Kidd K, Wang Y, Johnson BG, Kmoch S, Morrissey JJ, Bleyer AJ, Duffield JS, Singamaneni S, Chen YM.
    Am J Physiol Renal Physiol; 2021 Aug 01; 321(2):F236-F244. PubMed ID: 34251273
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  • 16. 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 01; 46(1):52-7. PubMed ID: 15983957
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  • 17. 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 01; 14(11):2883-93. PubMed ID: 14569098
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  • 20. 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 07; 7(1):7383. PubMed ID: 28785050
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