Associated Papers
MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families.
Granhøj J et al.
Clinical Kidney Journal, 2025
39781475 (PubMed )
Supplement: sfae355_supplemental_files.zip › 4._CKJ_Supplementary_r2_06.10.24.docx
Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.
Fistrek Prlic M et al.
Frontiers in Pediatrics, 2023
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Wenzel A et al.
Scientific Reports, 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
Select a paper to view details