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NPHS2 mutations

Published:2008-02 Issue:2 Volume:75 Page:135-138
ISSN:0019-5456
Container-title:The Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Bakr Ashraf,Yehia Soheir,El-Ghannam Doaa,Hammad Ayman,Ragab Mohamed,Sarhan Amr,Al-Husseni Fatma,Al-Morsy Zakaria

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s12098-008-0020-y.pdf

Reference10 articles.

1. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000; 24: 349–354.

2. Ruf RG, Lichterberger A, Karle SM, Hass JP, Anacleto FE, Schultheiss M et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of NS. J Am Soc Nephrol 2004; 15: 722–732.

3. Weber S, Gridouval O, Esquivel EL, Moriniere V, Tete MJ, Legendre C et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant NS and low post-transplant recurrence. Kidney Int 2004; 66: 571–579.

4. Özçakar ZB, Acar B, Yüksel, Ekim M, Yalçinkaya F. Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients. Pediatr Nephrol 2006; 21: 1093–1096.

5. Frishberg Y, Rinat C, Megged O, Shapira E, Feinstein S, Raas-Rothschild A. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 2002; 13: 400–405.

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A descriptive study of NPHS1 and NPHS2 mutations in children with congenital nephrotic syndrome;Gene Reports;2020-09

2. Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome;Journal of the Formosan Medical Association;2018-01

3. The amino acid mutations of the podocin in proteinuria: a meta-analysis;Renal Failure;2015-07-27

4. NPHS2Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum;Human Mutation;2013-12-09

5. Rituximab for refractory cases of childhood nephrotic syndrome;Pediatric Nephrology;2011-01-31

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