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

The lens capsule is a modified basement membrane that completely surrounds the ocular
lens. It is known that this extracellular matrix is important for both the structure and …

More than 100,000 genetic variants are classified as disease causing in public databases.
However, the true penetrance of many of these rare alleles is uncertain and might be over …

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

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 …

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive
Alport syndrome. Background Mutations of the type IV collagen COL4A5 gene cause X …

The mode of inheritance of Alport syndrome (ATS) has long been controversial. In 1927, the
disease was hypothesized as a dominant condition in which males were more severely …

Results The median renal survival time was 70 years, and the median age at first detection
of proteinuria was 17 years old. There was one patient with hearing loss and one patient …

Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in∼ 40% of
cases of thin basement membrane nephropathy, which is characterized by microscopic …

Background Inherited retinal disorders are clinically and genetically heterogeneous with
more than 150 gene defects accounting for the diversity of disease phenotypes. So far …