ABSTRACT Introduction Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1
variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. We …

Autosomal dominant polycystic kidney disease (ADPKD) is widely recognized as the most
common single-gene cause of progressive CKD. Genetic investigation of cohorts with …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in
polycystin genes, Pkd1 and Pkd2, but the underlying pathogenic mechanisms are poorly …

Thousands of pathogenic variants in more than 100 genes can cause kidney cysts with
substantial variability in phenotype and risk of subsequent kidney failure. Despite an …

ABSTRACT Background Autosomal dominant Alport Syndrome (ADAS), also known as thin
basement membrane disease (TBMD), is caused by pathogenic variants in the COL4A3 and …

Rationale & Objective Simple kidney cysts, which are common and usually considered of
limited clinical relevance, are associated with older age and lower glomerular filtration rate …

The concept of Alport kidney disease extends beyond classic AS. Patients carrying
pathogenic variants in any one of the COL4A3/A4/A5 genes can have variable phenotypes …

Background To identify the critical genes in the onset and progression of Immunoglobulin A
nephropathy (IgAN) and to explore its immune cell infiltration feature. Methods Differentially …

Alport syndrome spectrum can be considered as a group of genetic diseases affecting the
major basement membrane collagen type IV network in various organs including the ear …

Alport syndrome is a genetic disorder affecting the basement membranes of the kidney, ear
and eye, and represents a leading cause of monogenic kidney disease. Alport syndrome is …