Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93-Reference-Cited by-同舟云学术

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93

Published:2018-06-04 Issue:8 Volume:33 Page:1347-1363
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Bezdíčka Martin,Štolbová Šárka,Seeman Tomáš,Cinek Ondřej^ORCID,Malina Michal,Šimánková Naděžda,Průhová Štěpánka,Zieg Jakub

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/article/10.1007/s00467-018-3950-2/fulltext.html

Reference53 articles.

1. Kim JS, Bellew CA, Silverstein DM, Aviles DH, Boineau FG, Vehaskari VM (2005) High incidence of initial and late steroid resistance in childhood nephrotic syndrome. Kidney Int 68:1275–1281

2. Mekahli D, Liutkus A, Ranchin B, Yu A, Bessenay L, Girardin E, Van Damme-Lombaerts R, Palcoux JB, Cachat F, Lavocat MP, Bourdat-Michel G, Nobili F, Cochat P (2009) Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study. Pediatr Nephrol 24:1525–1532

3. Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA, Hildebrandt F (2015) A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 26:1279–1289

4. Lovric S, Ashraf S, Tan W, Hildebrandt F (2016) Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant 31:1802–1813

5. Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA (2017) Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int 91:937–947

Cited by 36 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. Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis;Clinical and Experimental Nephrology;2024-06-14

2. Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children;Italian Journal of Pediatrics;2024-04-22

3. Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin;Human Mutation;2024-03-21

4. Nephrotic syndrome sera induce different transcriptomes in podocytes based on the steroid response;Physiological Reports;2024-02

5. New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India;Pediatric Nephrology;2024-01-31