Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children
Author:
Affiliation:
1. Department of Pediatrics, Faculty of Life Sciences; Kumamoto University; Kumamoto Japan
2. Department of Urology, Faculty of Life Sciences; Kumamoto University; Kumamoto Japan
Publisher
Wiley
Subject
Nephrology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/nep.12627/fullpdf
Reference29 articles.
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2. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome;Kestila;Mol. Cell,1998
3. NPHS2, Encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome;Boute;Nat. Genet.,2000
4. Mutation in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis;Kaplan;Nat. Genet.,2000
5. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis;Winn;Science,2005
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1. A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome;Kidney International;2023-11
2. FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes;Journal of the American Society of Nephrology;2020-01-10
3. The importance of genetic study in steroid-resistant nephrotic syndrome;Journal of Renal Injury Prevention;2019-09-13
4. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways;The American Journal of Human Genetics;2019-02
5. Proteolytic program-dependent functions are impaired in INF2-mediated focal segmental glomerulosclerosis;2019-01-26
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