Associated Papers
Fifty Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases.
Sadeghi-Alavijeh O et al.
Journal of the American Society of Nephrology : Jasn, 2026
Genetic testing in autosomal dominant polycystic kidney disease: why it matters in 2025.
Cornec-Le Gall E et al.
Clinical Kidney Journal, 2025
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review.
Bleyer AJ et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
Elhassan EAE et al.
Journal of Nephrology, 2025
Endoplasmic reticulum stress as a driver and therapeutic target for kidney disease.
Byun JH et al.
Nature Reviews. Nephrology, 2025
Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.
Chen HL et al.
Nature Communications, 2024
Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.
Niewold TB et al.
Nature Reviews. Rheumatology, 2024
A novel multi-ancestry proteome-wide Mendelian randomization study implicates extracellular proteins, tubular cells, and fibroblasts in estimated glomerular filtration rate regulation.
Lanktree MB et al.
Kidney International, 2023
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.
Sadeghi-Alavijeh O et al.
Kidney International, 2023
Urinary stone disease: closing the heritability gap by challenging conventional Mendelian inheritance.
Halbritter J
Kidney International, 2023
Unveiling the Hidden Power of Uromodulin: A Promising Potential Biomarker for Kidney Diseases.
Thielemans R et al.
Diagnostics (basel, Switzerland), 2023
A UMOD variant with intermediate effects.
Carney EF
Nature Reviews. Nephrology, 2022
Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis.
Leenen E et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Autosomal dominant tubulointerstitial kidney disease: A review.
Živná M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
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
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
Gast C et al.
Bmc Nephrology, 2018
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Ekici AB et al.
Kidney International, 2014