TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome | Zendy

S. Mir | Zendy; Önder Yavaşcan | Zendy; Afig Berdeli | Zendy; Betül Sözeri | Zendy

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TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome

Author(s) -

S. Mir,

Önder Yavaşcan,

Afig Berdeli,

Betül Sözeri

Publication year - 2011

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfr202

Subject(s) - focal segmental glomerulosclerosis , medicine , trpc6 , nephrotic syndrome , kidney disease , endocrinology , glomerulonephritis , kidney , receptor , transient receptor potential channel

In steroid-resistant nephrotic syndrome (SRNS), a considerable number of patient progress to end-stage renal disease (ESRD), despite aggressive therapy. The latest advance in familial focal segmental glomerulosclerosis (FSGS) has been the discovery of a mutant form of canonical transient receptor potential channel 6 (TRPC6) leading to FSGS through unclear mechanisms. The aim of this study is to screen for TRPC6 mutations in familial and sporadic SRNS patients.

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