Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy

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)...

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Veröffentlicht in:	BioMed research international 2019, Vol.2019, p.5949485-7
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Actinin Actinin - genetics Biomedical research Child Cleavage Disease Drug Resistance - genetics Ethylenediaminetetraacetic acid Exons - genetics Family medical history Female Gene mutations Gene sequencing Genes Genetic aspects Glomerulonephritis, Membranous - genetics Humans IgA nephropathy Immunoglobulin A Immunoglobulin A - genetics Kidney - pathology Kidney diseases Kidneys Male Membranous nephropathy Mutation Mutation - genetics Nephrotic syndrome Nephrotic Syndrome - genetics Next-generation sequencing Patients Point mutation Proteins
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