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

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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.

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Authors and Affiliations

  1. Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstańców Wielkopolskich 72, 70-111, Szczecin, Poland

    Andrzej Ciechanowicz, Agnieszka Bińczak-Kuleta & Miłosz Parczewski

  2. Department of Pediatrics, Pediatric Hematology and Pediatric Oncology, Pomeranian Medical University, Szczecin, Poland

    Andrzej Brodkiewicz

  3. Department of Nephrology, Transplantology and Internal Diseases, Medical University, Poznań, Poland

    Stanisław Czekalski

Authors
  1. Andrzej Ciechanowicz
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  2. Andrzej Brodkiewicz
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  3. Agnieszka Bińczak-Kuleta
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  4. Miłosz Parczewski
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  5. Stanisław Czekalski
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Correspondence to Andrzej Ciechanowicz.

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Ciechanowicz, A., Brodkiewicz, A., Bińczak-Kuleta, A. et al. “Treasure your exceptions”: recent advances in molecular genetics of glomerular disease. J Appl Genet 49, 93–99 (2008). https://doi.org/10.1007/BF03195253

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  • DOI: https://doi.org/10.1007/BF03195253

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