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

Few prospective, randomized controlled clinical trials address the diagnosis and
management of patients with Alport syndrome or thin basement membrane nephropathy …

Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Renal basement membrane components. Basement membranes are specialized
extracellular matrices found throughout the body. They surround all epithelia, endothelia …

A mouse model for the autosomal form of Alport syndrome was produced. These mice
develop a progressive glomerulonephritis with microhematuria and proteinuria, consistent …

Laminins, heterotrimers of α, β, and γ chains, are prominent constituents of basal laminae
(BLs) throughout the body. Previous studies have shown that laminins affect both …

Hereditary familial or congenital nephritis is a definite entity.... Deafness is a marked feature
in nearly all these cases... The male members of a family tend to develop nephritis and …

Alport syndrome is an inherited nephropathy associated with mutations in genes encoding
type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations …

Aortic aneurysm, including both abdominal aortic aneurysm and thoracic aortic aneurysm, is
the cause of death of 1% to 2% of the Western population. This review focuses only on …

Fifty-eight children with Alport's syndrome which were investigated and followed up in our
department during the last 20 years are reported in this study. Forty-two were male and 16 …