Associated Papers
A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
Valluru MK et al.
Journal of Medical Genetics, 2023
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
Mabillard H et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
35947615 (PubMed )
Supplement: pnas.2114734119.sapp.pdf
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
Pathogenic uromodulin mutations result in premature intracellular polymerization.
Stewart AP et al.
Febs Letters, 2015
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