The term “thin basement membrane”(TBM) refers to a glomerular disorder characterized by
diffuse uniform thinning of the glomerular basement membrane (GBM) on electron …

Genetic forms of focal and segmental glomerulosclerosis (FSGS) often have extra-renal
manifestations. This study examined FSGS-associated genes from the Genomics England …

Rationale & Objective Alport syndrome (AS) is the most common genetic glomerular disease
caused by mutations that affect type IV collagen. However, the clinical characteristics and …

Polycystic kidney diseases are a group of monogenically inherited disorders characterized
by cyst development in the kidney with defects in primary cilia function central to …

Genetic kidney disease is common but often unrecognized. It accounts for most cystic kidney
diseases and tubulopathies, many forms of congenital abnormalities of the kidney and …

Poly (ADP-ribose) polymerase-1 (PARP1) binds DNA lesions to catalyse poly (ADP-ribosyl)
ation (PARylation) using NAD+ as a substrate. PARP1 plays multiple roles in cellular …

While autosomal dominant polycystic kidney disease (ADPKD) is a dichotomous diagnosis,
substantial variability in disease severity exists. Identification of inherited risk through family …

Renal ciliopathies are a common cause of kidney failure in children and adults, and this
study reviewed their ocular associations. Genes affected in renal ciliopathies were identified …

Alport syndrome is characterized by hematuria, progressive kidney failure, hearing loss, and
ocular abnormalities. 1 X-linked inheritance caused by pathogenic COL4A5 variants is much …

Background Clinical variability among individuals with heterozygous pathogenic/likely
pathogenic (P/LP) variants in the COL4A3/COL4A4 genes (also called autosomal dominant …