Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

@article{Gbadegesin2007MutationsIP,
  title={Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).},
  author={Rasheed A Gbadegesin and Bernward G. Hinkes and Bethan E. Hoskins and Christopher N Vlangos and Saskia F. Heeringa and Jinhong Liu and Chantal Loirat and Fatih Ozaltin and Seema Hashmi and Francis Ulmer and Roxanna Cleper and Robert B. Ettenger and Corinne Antignac and Roger C. Wiggins and Martin Zenker and Friedhelm Hildebrandt},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={2007},
  volume={23 4},
  pages={
          1291-7
        }
}
  • Rasheed A Gbadegesin, Bernward G. Hinkes, +13 authors Friedhelm Hildebrandt
  • Published in
    Nephrology, dialysis…
    2007
  • Medicine
  • BACKGROUND AND OBJECTIVES Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides syndromic DMS, isolated (non-syndromic) DMS (IDMS) has been described. The etiology and pathogenesis of DMS is not understood. We recently identified by positional cloning recessive mutations in the gene PLCE1/NPHS3 as a novel cause of IDMS. We demonstrated a role of PLCE1… CONTINUE READING

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