Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00508-015-0948-7.pdf
Reference17 articles.
1. Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int. 2015;88(4):676–83.
2. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002;39(12):882–92.
3. Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet’al P, Kalbacova M, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009;85(2):204–13.
4. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. 1999;8(11):2001–8.
5. Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45(3):299–303.
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1. An intermediate-effect size variant in UMOD confers risk for chronic kidney disease;Proceedings of the National Academy of Sciences;2022-08-10
2. An intermediate effect size variant in UMOD confers risk for chronic kidney disease;2021-10-02
3. Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort;Scientific Reports;2021-02-11
4. Autosomal Dominant Tubulointerstitial Kidney Disease—Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease;Kidney International Reports;2020-04
5. Uromodulin-related autosomal-dominant tubulointerstitial kidney disease—pathogenetic insights based on a case;Clinical Kidney Journal;2018-11-12
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