Objective: Rare coexistence of disease or pathology Background: COVID-19 can be
complicated by kidney disease, including focal segmental glomerulosclerosis (FSGS) …

Objectives: Identify the etiology of autosomal dominant tubulointerstitial kidney disease.
Describe the appropriate evaluation of autosomal dominant tubulointerstitial kidney disease …

The class of human genetic kidney diseases is extremely broad and heterogeneous.
Accordingly, the range of associated disease phenotypes is highly variable. Many children …

Introduction Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is
predominantly caused by frameshift mutations owing to a single-base insertion into the …

Mosaicism is defined as the presence of 2 genetically different populations of cells in a
single organism, resulting from a mutation during early embryogenesis. Hopp et al …

Background: Acute kidney injury (AKI) is a severe condition marked by rapid renal function
deterioration and elevated mortality, with traditional biomarkers lacking sensitivity and …

The interplay between genetic and environmental factors influences the course of chronic
kidney disease (CKD). In this context, genetic alterations in the kidney disease gene MUC1 …

Background UMOD is exclusively produced by renal epithelial cells. Recent genome-wide
association studies (GWAS) suggested that common variants in UMOD gene are closely …

Heterozygous mutations in REN cause autosomal dominant tubulointerstitial kidney disease
(ADTKD), an increasingly recognized entity characterized by interstitial fibrosis and tubular …

To date, only a single transcriptome-wide m6A sequencing study of clear cell renal cell
carcinoma (ccRCC) has been reported, with no validation so far. Herein, by TCGA analysis …