Article
Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.
Nephrology (Carlton, Vic.) - 1 Dec 2021
Liu Zhiying, Zhang Haiyan, Zhao Shipeng, Zhang Qian, Zhang Ruixiao, Han Yue, Shao Leping, Zhao Xiangzhong
Abstract excerpt
BACKGROUND: Focal segmental glomerulosclerosis (FSGS, OMIM®#603 965) is an overriding cause that leads to end-stage renal disease (ESRD). As a member of TRP superfamily, mutations of TRPC6 gene are closely linked to FSGS. By now, 20 missense mutations have been reported, among them, nine gain-of-function (GOF), and five loss-of-function (LOF) mutations have been recognized according to the effect on TRPC6 channel...
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