Glomerular Filtration and Albuminuria Chronic kidney diseases generally arise from a
disordered kidney filtration barrier within glomeruli. This review describes the roles of …

Usually the dense extracellular structure in fibrotic tissues is described as extracellular
matrix (ECM) or simply as collagen. However, fibrosis is not just fibrosis, which is already …

Basement membranes (BMs) are ubiquitous extracellular matrices whose composition
remains elusive, limiting our understanding of BM regulation and function. By developing a …

Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …

Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular,
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …

Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …

In 2013, we published a set of clinical practice recommendations for the treatment of Alport
syndrome in this journal. We recommended delaying the initiation of angiotensin-converting …

Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

The basement membrane is a thin but dense, sheet-like specialized type of extracellular
matrix that has remarkably diverse functions tailored to individual tissues and organs. Tightly …

Background Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or
steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion …