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《International Journal of Pathology and Clinical Medicine》 2009-04
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Mutation of PLCE1 gene and steroid-resistant nephrotic syndrome

NIU Xiaoling, HUANG Wenyan (Department of Nephrology and Rheumatology,Children's Hospital of Fudan University,Shanghai 201102,China)  
PLCE1 (phospholipase C epsilon-1) gene locates at chromosome 10q23.32-q24.1,and its encoded protein-phospholipase Cε1(PLCε1) is a member of phospholipase C (PLC) family.PLCε1 expresses in the matured podocyte of renal glomerulus and plays an essential role in the formation and normal development of capillary loop of glomerulus.Recently research has found that the mutation of PLCE1 gene could lead to autosomal recessive nephrotic syndrome.The nonsense mutation of PLCE1 gene could lead to infantal early-onset nephrotic syndrome,which presents as diffuse mesangial sclerosis.The nephrotic syndrome caused by the missense mutation of PLCE1 gene is focal segmental glomerulosclerosis.The molecular mechanisms of PLCε1 is unclear.This review focused on the relationship between the PLCE1 gene and its encoded protein,the mutation of PLCE1 gene and steroid-resistant nephrotic syndrome.
【Fund】: 上海市卫生局科研项目(2007-138)~~
【CateGory Index】: R692.3
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