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Condition: Proteinuria
Countries: India Health
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Total 1 results found since Jan 2013.
First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis
In this study, we report the identification of a heterozygous nonsense PODXL mutations (Arg326X) in a Chinese pedigree featured by proteinuria and renal insufficiency with AD inheritance by whole exome sequencing (WES). Total mRNA and PODXL protein abundance were decreased in available peripheral blood cell samples of two affected patients undergoing hemodialysis, compared to those in healthy controls and hemodialysis controls without PODXL mutation. We identified another novel PODXL heterozygous nonsense mutation (c.C1133G; p.Ser378X) in a British-Indian pedigree of AD-FSGS by WES. In vitro study showed that, human embryo...
Source: Clinical Science - December 6, 2018 Category: Biomedical Science Authors: Lin, F.-J., Yao, L., Hu, X.-Q., Bian, F., Ji, G., Jiang, G.-R., Gale, D. P., Ren, H.-Q. Tags: PublishAheadOfPrint Source Type: research
