Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.

@article{Oleggini2006RareFV,
  title={Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.},
  author={Roberta Oleggini and Roberta Bertelli and Armando Di Donato and Marco Di Duca and Gianluca Caridi and Simone Sanna-Cherchi and Francesco Scolari and Luisa Murer and Landino Allegri and Rosanna Coppo and Francesco Emma and Giovanni Camussi and Francesco Perfumo and Gian Marco Ghiggeri},
  journal={Gene expression},
  year={2006},
  volume={13 1},
  pages={
          59-66
        }
}
Podocin (NPHS2) is a component of the glomerular slit-diaphragm, with major regulatory functions in renal permeability of proteins. Loss of podocin and decrease in resynthesis may influence the outcome of proteinuric renal disease such as segmental glomerulosclerosis (FSGS), and promoter functionality plays a key role in this process. NPHS2 promoter variants with functional activity may be a part of the problem of podocin resynthesis. We sequenced NPHS2 promoter region from -628 to ATG in a… CONTINUE READING
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