COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?

@article{Voskarides2008COL4A3COL4A4ML,
  title={COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?},
  author={K Voskarides and Alkis M Pierides and Constantinos Deltas},
  journal={Connective tissue research},
  year={2008},
  volume={49 3},
  pages={283-8}
}
The recent description of multiple gene defects in hereditary podocytopathies and in hereditary glomerular basement membrane diseases has dramatically improved the current state of our knowledge on the renal glomerular filtration barrier. Recently described mutations in collagen IV and laminin in patients with hematuria and severe nephrotic syndrome add to other experimental data supporting the hypothesis that the glomerular basement membrane (GBM) may also have a significant role in protein… CONTINUE READING
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COL4A3/COL4A4 mutations in families with thin basement membrane nephropathy that is associated with focal segmental glomerulosclerosis and chronic or end-stage renal failure

  • K. Voskarides, L. Damianou, +7 authors E Alexopoulos
  • J. Am. Soc. Nephrol.,
  • 2007
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