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Article

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

The New England journal of medicine - 28 Jul 2011

Mele Caterina, Iatropoulos Paraskevas, Donadelli Roberta, Calabria Andrea, Maranta Ramona, Cassis Paola, Buelli Simona, Tomasoni Susanna, Piras Rossella, Krendel Mira, Bettoni Serena, Morigi Marina, Delledonne Massimo, Pecoraro Carmine, Abbate Isabella, Capobianchi Maria Rosaria, Hildebrandt Friedhelm, Otto Edgar, Schaefer Franz, Macciardi Fabio, Ozaltin Fatih, Emre Sevinc, Ibsirlioglu Tulin, Benigni Ariela, Remuzzi Giuseppe, Noris Marina

Abstract excerpt

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...

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Drug Resistance
Genes, Recessive
Glomerulosclerosis, Focal Segmental
Glucocorticoids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kidney Glomerulus

Microscopy, Fluorescence

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Identifiers

PMID: 21756023
DOI: 10.1056/NEJMoa1101273
PMCID: PMC3701523

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MYO1E mutations and childhood familial focal segmental glomerulosclerosis.PMID 21756023Read ↗

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