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Journal of Applied Genetics 49(1), 2008, pp. 93-99

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

Andrzej Ciechanowicz, Andrzej Brodkiewicz, Agnieszka Binczak-Kuleta, Milosz Parczewski, Stanislaw Czekalski

Abstract: 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.

Key words: gene mutation, glomerular filtration barrier, monogenic glomerulopathy, renal hypodysplasia.

Correspondence: A. Ciechanowicz, Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstancow Wielkopolskich 72, 70-111 Szczecin, Poland; e-mail:

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