Associated Papers
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) in Chinese Patients.
Li MS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
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
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.
Wang Y et al.
Journal of Clinical Immunology, 2020
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
Edwards N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
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