Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
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
Quantifying clinical and genetic factors influencing rate and severity of autosomal dominant tubulointerstitial kidney disease progression.
Ramesh SS et al.
Journal of Pharmacokinetics and Pharmacodynamics, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.
Lin SC et al.
Biomedicines, 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
Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease.
Kim Y et al.
American Journal of Physiology. Renal Physiology, 2021
A Uromodulin Mutation Drives Autoimmunity and Kidney Mononuclear Phagocyte Endoplasmic Reticulum Stress.
Plotkin M et al.
The American Journal of Pathology, 2020
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidd K et al.
Kidney International Reports, 2020
Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease.
Chun J et al.
Kidney International Reports, 2020
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ et al.
Pediatric Nephrology (berlin, Germany), 2019
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Lata S et al.
Annals of Internal Medicine, 2018
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD).
Kemter E et al.
Scientific Reports, 2017
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0