'Treasure your exceptions': recent advances in molecular genetics of glomerular disease

• Authors: A. Ciechanowicz , A. Brodkiewicz , A. Binczak-Kuleta , M. Parczewski , S. Czekalski
• Languages of publication: EN

Abstracts

EN

The glomerular filtration barrier consists of endothelial cells, the glomerular basement membrane, and podocytes. The membrane is a highly crosslinked macromolecular meshwork composed of specific extracellular matrix proteins. The adjacent foot processes of podocytes are bridged along their basolateral surfaces by a slit diaphragm (a porous filter structure of nephrin molecules). Recent discoveries of mutations in the range of genes encoding proteins involved in the structure or function of the glomerular filtration barrier have provided new insights into mechanisms of glomerular diseases. In this review, we summarize recent progress in the elucidation of the genetic basis of some glomerulopathies in humans.

Keywords

EN

GENE MUTATION; GLOMERULAR DISEASE; GLOMERULOPATHY

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2008
• Volume: 49
• Issue: 1
• Pages: 93-99

Contributors

author

A. Ciechanowicz

author

A. Brodkiewicz

author

A. Binczak-Kuleta

author

M. Parczewski

author

S. Czekalski

• Document Type: ARTICLE
• Publication order reference: A. Ciechanowicz, Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstancow Wielkopolskich 72, 70?111 Szczecin, Poland