Article
Uromodulin rs4293393 T>C variation is associated with kidney disease in patients with type 2 diabetes.
The Indian journal of medical research - 1 Nov 2017
Kumar Vinod, Yadav Ashok Kumar, Kumar Vivek, Bhansali Anil, Jha Vivekanand
Abstract excerpt
Background & objectives: Uromodulin, a UMOD gene encoded glycoprotein is synthesized exclusively in renal tubular cells and released into urine. Mutations lead to uromodulin misfolding and retention in the kidney, where it might stimulate cells of immune system to cause inflammation and progression of kidney disease. Genome-wide association studies (GWAS) have identified UMOD locus to be associated with...
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