MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

  title={MYO1E mutations and childhood familial focal segmental glomerulosclerosis.},
  author={Caterina Mele and Paraskevas Iatropoulos and Roberta Donadelli and Andrea Calabria and Ramona Maranta and Paola Cassis and Simona Buelli and Susanna Tomasoni and Rossella Piras and M Krendel and Serena Bettoni and Marina Morigi and Massimo Delledonne and Carmine Pecoraro and Isabella Abbate and Maria Rosaria Capobianchi and Friedhelm Hildebrandt and Edgar A. Otto and Franz Schaefer and Fabio Macciardi and Fatih Ozaltin and Sevinç Emre and Tulin Ibsirlioglu and Ariela Benigni and Giuseppe Remuzzi and Marina Noris},
  journal={The New England journal of medicine},
  volume={365 4},
BACKGROUND Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of patients. Genetic studies have shown that familial focal segmental glomerulosclerosis is a disease of the podocytes, which are major components of the glomerular filtration barrier. However, the molecular cause in over half the cases of primary focal segmental glomerulosclerosis… CONTINUE READING
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Actin up: regulaThe New England Journal of Medicine Downloaded from at UNIVERSITA

  • C Faul, K Asanuma, E Yanagida-Asanuma, K Kim, P. Mundel
  • 2011

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