Article
Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy.
BioMed research international - 1 Jan 2019
Meng Lingzhang, Cao Shan, Lin Na, Zhao Jingjie, Cai Xulong, Liang Yonghua, Huang Ken, Lin Mali, Chen Xiajing, Li Dongming, Wang Junli, Yang Lijuan, Wei Aibo, Li Genliang, Lu Qingmei, Guo Yuxiu, Wei Qiuju, Tan Junhua, Huang Meiying, Huang Yuming, Wang Jie, Liu Yunguang
Abstract excerpt
ACTN4, a gene which codes for the protein α-actinin-4, is critical for the maintenance of the renal filtration barrier. It is well known that ACTN4 mutations can lead to kidney dysfunction, such as familial focal segmental glomerulosclerosis (FSGS), a common cause of primary nephrotic syndrome (PNS). To elucidate whether other mutations of ACTN4 exist in PNS patients, we sequenced the ACTN4 gene in biopsies...
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