Autosomal Dominant Tubulointerstitial Kidney Disease
Author:
Funder
NIH
NIDDK
Publisher
Elsevier BV
Subject
Nephrology
Reference38 articles.
1. Lifetime incidence of CKD stages 3-5 in the United States;Grams;Am J Kidney Dis,2013
2. Technical report: ethical and policy issues in genetic testing and screening of children;Ross;Genet Med,2013
3. Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure;Smith;Clin J Am Soc Nephrol,2011
4. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene;Bleyer;Kidney Int,2003
5. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy;Hart;J Med Genet,2002
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1. Autosomal Dominant Tubulointerstitial Kidney Disease Case with Sever Acute Kidney Injury in Activities Beyond the Usual: An Unusual Presentation of the Disease;Journal of Health Reports and Technology;2024-01-31
2. Computational investigation of a novel uromodulin gene mutation (p.Y286C) in a family with autosomal dominant tubulointerstitial renal disease: A case study;Human Gene;2023-09
3. Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease;Disease Models & Mechanisms;2023-06-01
4. OncoRTT: Predicting novel oncology-related therapeutic targets using BERT embeddings and omics features;Frontiers in Genetics;2023-04-06
5. Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis;Journal of Biological Chemistry;2023-03
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