{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T04:58:09Z","timestamp":1788325089476,"version":"build-2803163510"},"reference-count":25,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2017]]},"DOI":"10.5582\/irdr.2017.01037","type":"journal-article","created":{"date-parts":[[2017,11,26]],"date-time":"2017-11-26T22:16:34Z","timestamp":1511734594000},"page":"299-303","source":"Crossref","is-referenced-by-count":11,"title":["Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at &lt;i&gt;NPHS1&lt;\/i&gt; and &lt;i&gt;ADCK4&lt;\/i&gt; genes in two Chinese siblings"],"prefix":"10.5582","volume":"6","author":[{"given":"Hongwen","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatric, Peking University First Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Peking University First Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Peking University First Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuhui","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Peking University First Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Peking University First Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijie","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Peking University First Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3542","reference":[{"key":"1","unstructured":"1. Andolino TP, Reid-Adam J. Nephrotic syndrome. Pediatr Rev. 2015; 36:117-125; quiz 126, 129."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft f\u00fcr Paediatrische Nephrologie Study Group. Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007; 119:e907-919.","DOI":"10.1542\/peds.2006-2164"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Sako M, Nakanishi K, Obana M, Yata N, Hoshii S, Takahashi S, Wada N, Takahashi Y, Kaku Y, Satomura K, Ikeda M, Honda M, Iijima K, Yoshikawa N. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int. 2005; 67:1248-1255.","DOI":"10.1111\/j.1523-1755.2005.00202.x"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Tory K, Menyhard DK, Woerner S, Nevo F, Gribouval O, Kerti A, Straner P, Arrondel C, Huynh Cong E, Tulassay T, Mollet G, Perczel A, Antignac C. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet. 2014; 46:299-304.","DOI":"10.1038\/ng.2898"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Bouchireb K, Boyer O, Gribouval O, et al. NPHS2 mutations in steroid-resistant nephrotic syndrome: A mutation update and the associated phenotypic spectrum. Hum Mutat. 2014; 35:178-186.","DOI":"10.1002\/humu.22485"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene. 2012; 502:133-137.","DOI":"10.1016\/j.gene.2012.04.063"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Hall G, Gbadegesin RA. Translating genetic findings in hereditary nephrotic syndrome: The missing loops. Am J Physiol Renal Physiol. 2015; 309:F24-28.","DOI":"10.1152\/ajprenal.00683.2014"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Benoit G, Machuca E, Antignac C. Hereditary nephrotic syndrome: A systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol. 2010; 25:1621-1632.","DOI":"10.1007\/s00467-010-1495-0"},{"key":"9","unstructured":"9. Lovric S, Ashraf S, Tan W, Hildebrandt F. Genetic testing in steroid-resistant nephrotic syndrome: When and how? Nephrol Dial Transplant. 2016; 31:1802-1813."},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Gbadegesin R, Lavin P, Foreman J, Winn M. Pathogenesis and therapy of focal segmental glomerulosclerosis: An update. Pediatr Nephrol. 2011; 26:1001-1015.","DOI":"10.1007\/s00467-010-1692-x"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Schoeb DS, Chernin G, Heeringa SF, et al. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant. 2010; 25:2970-2976.","DOI":"10.1093\/ndt\/gfq088"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Philippe A, Nevo F, Esquivel EL, et al. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008; 19:1871-1878.","DOI":"10.1681\/ASN.2008010059"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Machuca E, Hummel A, Nevo F, Dantal J, Martinez F, Al-Sabban E, Baudouin V, Abel L, Grunfeld JP, Antignac C. Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int. 2009; 75:727-735.","DOI":"10.1038\/ki.2008.650"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Santin S, Garcia-Maset R, Ruiz P, et al. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int. 2009; 76:1268-1276.","DOI":"10.1038\/ki.2009.381"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Korkmaz E, Lipska-Zietkiewicz BS, Boyer O, et al. ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. J Am Soc Nephrol. 2016; 27:63-68.","DOI":"10.1681\/ASN.2014121240"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Ashraf S, Gee HY, Woerner S, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013; 123:5179-5189.","DOI":"10.1172\/JCI69000"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Malaga-Dieguez L, Susztak K. ADCK4 &quot;reenergizes&quot; nephrotic syndrome. J Clin Invest. 2013; 123:4996-4999.","DOI":"10.1172\/JCI73168"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Aya K, Tanaka H, Seino Y. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int. 2000; 57:401-404.","DOI":"10.1046\/j.1523-1755.2000.00859.x"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P. Genotype\/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet. 2002; 11:379-388.","DOI":"10.1093\/hmg\/11.4.379"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Sun ZJ, Ng KH, Liao P, Zhang Y, Ng JL, Liu ID, Tan PH, Chong SS, Chan YH, Liu J, Davila S, Heng CK, Jordan SC, Soong TW, Yap HK. Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis. Am J Transplant. 2015; 15:3229-3238.","DOI":"10.1111\/ajt.13378"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Genetics of coenzyme q10 deficiency. Mol Syndromol. 2014; 5:156-162.","DOI":"10.1159\/000362826"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Trevisson E, DiMauro S, Navas P, Salviati L. Coenzyme Q deficiency in muscle. Curr Opin Neurol. 2011; 24:449-456.","DOI":"10.1097\/WCO.0b013e32834ab528"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition. Neurology. 2005; 65:606-608.","DOI":"10.1212\/01.wnl.0000172859.55579.a7"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Montini G, Malaventura C, Salviati L. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med. 2008; 358:2849-2850.","DOI":"10.1056\/NEJMc0800582"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Heeringa SF, Chernin G, Chaki M, et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011; 121:2013-2024.","DOI":"10.1172\/JCI45693"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/4\/6_2017.01037\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,6]],"date-time":"2019-10-06T21:05:57Z","timestamp":1570395957000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/6\/4\/6_2017.01037\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2017.01037","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2017]]}}}