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Document type:
journal article 
Author(s):
Hinkes, B; Wiggins, RC; Gbadegesin, R; Vlangos, CN; Seelow, D; Nürnberg, G; Garg, P; Verma, R; Chaib, H; Hoskins, BE; Ashraf, S; Becker, C; Hennies, HC; Goyal, M; Wharram, BL; Schachter, AD; Mudumana, S; Drummond, I; Kerjaschki, D; Waldherr, R; Dietrich, A; Ozaltin, F; Bakkaloglu, A; Cleper, R; Basel-Vanagaite, L; Pohl, M; Griebel, M; Tsygin, AN; Soylu, A; Müller, D; Sorli, CS; Bunney, TD; Katan, M; Liu, J; Attanasio, M; O'toole, JF; Hasselbacher, K; Mucha, B; Otto, EA; Airik, R; Kispert, A; Kel...    »
 
Title:
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 
Abstract:
Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional cloning, we identified mutations in the phospholipase C epsilon gene (PLCE1) as causing early-onset nephrotic syndrome with end-stage kidney disease. Kidney histology of affected individuals showed diffuse mesangial sclerosis (DMS). Using immunofluorescence, we found PLCepsilon1 expression in developing and mature...    »
 
Journal title abbreviation:
Nat Genet 
Year:
2006 
Journal volume:
38 
Journal issue:
12 
Pages contribution:
1397-405 
Language:
eng 
Print-ISSN:
1061-4036 
TUM Institution:
Kinderklinik und Poliklinik