{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:20:45Z","timestamp":1773832845463,"version":"3.50.1"},"reference-count":53,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T00:00:00Z","timestamp":1647043200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T00:00:00Z","timestamp":1647043200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.1007\/s00438-022-01877-3","type":"journal-article","created":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T14:02:41Z","timestamp":1647093761000},"page":"689-698","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect"],"prefix":"10.1007","volume":"297","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0354-8779","authenticated-orcid":false,"given":"Manal M.","family":"Thomas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heba Mostafa","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara H.","family":"El-Dessouky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abeer","family":"Ramadan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osama Ezzat","family":"Botrous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2480-0147","authenticated-orcid":false,"given":"Mohamed S.","family":"Abdel-Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,3,12]]},"reference":[{"key":"1877_CR1","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.gene.2012.04.063","volume":"502","author":"A Abid","year":"2012","unstructured":"Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SAH, Mehdi SQ (2012) A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene 502:133\u2013137. https:\/\/doi.org\/10.1016\/j.gene.2012.04.063","journal-title":"Gene"},{"issue":"10","key":"1877_CR2","doi-asserted-by":"publisher","first-page":"1760","DOI":"10.2215\/CJN.00380116","volume":"11","author":"TH Banh","year":"2016","unstructured":"Banh TH, Hussain-Shamsy N, Patel V, Vasilevska-Ristovska J, Borges K, Sibbald C, Lipszyc D, Brooke J, Geary D, Langlois V, Reddon M, Pearl R, Levin L, Piekut M, Licht CPB, Radhakrishnan S, Aitken-Menezes K, Harvey E, Hebert D, Piscione TD, Parekh RS (2016) Ethnic differences in incidence and outcomes of childhood nephritic syndrome. Clin J Am Soc Nephrol 11(10):1760\u20131768. https:\/\/doi.org\/10.2215\/CJN.00380116","journal-title":"Clin J Am Soc Nephrol"},{"key":"1877_CR3","first-page":"357","volume":"7","author":"M Basiratnia","year":"2013","unstructured":"Basiratnia M, Yavarian M, Torabinezhad S, Erjaee A (2013) NPHS2 gene in steroid-resistant nephrotic syndrome prevalence, clinical course, and mutational spectrum in south-West Iranian children. Iran J Kidney Dis 7:357\u2013362","journal-title":"Iran J Kidney Dis"},{"issue":"1","key":"1877_CR4","doi-asserted-by":"publisher","first-page":"144","DOI":"10.4103\/1319-2442.279934","volume":"31","author":"R Baylarov","year":"2020","unstructured":"Baylarov R, Senol O, Atan M, Berdeli A (2020) NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. Saudi J Kidney Dis Transpl 31(1):144\u2013149. https:\/\/doi.org\/10.4103\/1319-2442.279934","journal-title":"Saudi J Kidney Dis Transpl"},{"key":"1877_CR5","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1007\/s00467-010-1495-0","volume":"25","author":"G Benoit","year":"2010","unstructured":"Benoit G, Machuca E, Antignac C (2010) Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 25:1621\u20131632. https:\/\/doi.org\/10.1007\/s00467-010-1495-0","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"1877_CR6","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1016\/j.kint.2016.10.013","volume":"91","author":"A Bierzynska","year":"2017","unstructured":"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(4):937\u2013947. https:\/\/doi.org\/10.1016\/j.kint.2016.10.013","journal-title":"Kidney Int"},{"key":"1877_CR7","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1002\/humu.22485","volume":"35","author":"K Bouchireb","year":"2014","unstructured":"Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morini\u00e8re V, Campait R, Ars E, Brackman D, Dantal J, Eckart P, Gigante M et al (2014) NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. Hum Mutat 35:178\u2013186. https:\/\/doi.org\/10.1002\/humu.22485","journal-title":"Hum Mutat"},{"issue":"4","key":"1877_CR8","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/74166","volume":"24","author":"N Boute","year":"2000","unstructured":"Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24(4):349\u2013354. https:\/\/doi.org\/10.1038\/74166","journal-title":"Nat Genet"},{"issue":"9","key":"1877_CR9","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.1038\/ejhg.2014.252","volume":"23","author":"G Bullich","year":"2015","unstructured":"Bullich G, Trujillano D, Santin S, Ossowski S, Mendiz\u00e1bal S, Fraga G, Madrid A, Ariceta G, Ballar\u00edn J, Torra R, Estivill X, Ars E (2015) Targeted next generation sequencing in steroid-resistant nephritic syndrome: mutations in multiple glomerular genes may influence disease severity. Eur J Hum Genet 23(9):1192\u20131199. https:\/\/doi.org\/10.1038\/ejhg.2014.252","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"1877_CR10","doi-asserted-by":"publisher","first-page":"2075","DOI":"10.2215\/CJN.01190210","volume":"5","author":"AK B\u00fcscher","year":"2010","unstructured":"B\u00fcscher AK, Kranz B, B\u00fcscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Br\u00f6king E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M (2010) Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 5(11):2075\u20132084. https:\/\/doi.org\/10.2215\/CJN.01190210","journal-title":"Clin J Am Soc Nephrol"},{"key":"1877_CR11","doi-asserted-by":"publisher","first-page":"2742","DOI":"10.1681\/ASN.V12122742","volume":"12","author":"G Caridi","year":"2001","unstructured":"Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM (2001) Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 12:2742\u20132746. https:\/\/doi.org\/10.1681\/ASN.V12122742","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"1877_CR12","doi-asserted-by":"publisher","first-page":"7","DOI":"10.23876\/j.krcp.20.001","volume":"39","author":"HI Cheong","year":"2020","unstructured":"Cheong HI (2020) Genetic tests in children with steroid-resistant nephrotic syndrome. Kidney Res Clin Pract 39(1):7\u201316. https:\/\/doi.org\/10.23876\/j.krcp.20.001","journal-title":"Kidney Res Clin Pract"},{"key":"1877_CR13","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1007\/s00467-008-0861-7","volume":"23","author":"G Chernin","year":"2008","unstructured":"Chernin G, Heeringa SF, Gbadegesin R, Liu J, Hinkes BG, Vlangos CN, Vega-Warner V, Hildebrandt F (2008) Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23:1455\u20131460. https:\/\/doi.org\/10.1007\/s00467-008-0861-7","journal-title":"Pediatr Nephrol"},{"key":"1877_CR14","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1007\/s00467-007-0620-1","volume":"23","author":"HY Cho","year":"2008","unstructured":"Cho HY, Lee JH, Choi HJ, Lee BH, Ha IS, Choi Y, Cheong HI (2008) WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23:63\u201370. https:\/\/doi.org\/10.1007\/s00467-007-0620-1","journal-title":"Pediatr Nephrol"},{"issue":"12","key":"1877_CR15","doi-asserted-by":"publisher","first-page":"2299","DOI":"10.1007\/s00467-016-3509-z","volume":"31","author":"C Dossier","year":"2016","unstructured":"Dossier C, Lapidus N, Bayer F, Sellier-Leclerc AL, Boyer O, de Pontual L, May A, Nathanson S, Orzechowski C, Simon T, Carrat F, Deschenes G (2016) Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic? Pediat Nephrol 31(12):2299\u20132308. https:\/\/doi.org\/10.1007\/s00467-016-3509-z","journal-title":"Pediat Nephrol"},{"issue":"8","key":"1877_CR16","doi-asserted-by":"publisher","first-page":"1241","DOI":"10.1007\/s00467-011-1851-8","volume":"26","author":"L El Bakkali","year":"2011","unstructured":"El Bakkali L, Pereira R, Kuik DJ, Ket JC, vanWijk JA (2011) Nephrotic syndrome in the Netherlands: a populationbased cohort study and a review of the literature. Pediat Nephrol 26(8):1241\u20131246. https:\/\/doi.org\/10.1007\/s00467-011-1851-8","journal-title":"Pediat Nephrol"},{"issue":"3","key":"1877_CR17","doi-asserted-by":"publisher","first-page":"55","DOI":"10.3345\/kjp.2017.60.3.55","volume":"60","author":"TS Ha","year":"2017","unstructured":"Ha TS (2017) Genetics of hereditary nephrotic syndrome: a clinical review. Korean J Pediatr 60(3):55\u201363. https:\/\/doi.org\/10.3345\/kjp.2017.60.3.55","journal-title":"Korean J Pediatr"},{"key":"1877_CR18","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","volume":"366","author":"C Has","year":"2012","unstructured":"Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF (2012) Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 366:1508\u20131514. https:\/\/doi.org\/10.1056\/NEJMoa1110813","journal-title":"N Engl J Med"},{"issue":"4","key":"1877_CR19","doi-asserted-by":"publisher","first-page":"e907","DOI":"10.1542\/peds.2006-2164","volume":"119","author":"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","year":"2007","unstructured":"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 (2007) 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 119(4):e907-919. https:\/\/doi.org\/10.1542\/peds.2006-2164","journal-title":"Pediatrics"},{"key":"1877_CR20","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1111\/nep.12241","volume":"19","author":"A Jaffer","year":"2014","unstructured":"Jaffer A, Unnisa W, Raju D, Jahan P (2014) NPHS2 mutation analysis and primary nephrotic syndrome in south Indians. Nephrology 19:398\u2013403. https:\/\/doi.org\/10.1111\/nep.12241","journal-title":"Nephrology"},{"issue":"9","key":"1877_CR21","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1111\/apa.12317","volume":"102","author":"S Joshi","year":"2013","unstructured":"Joshi S, Andersen R, Jespersen B, Rittig S (2013) Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing. Acta Paediatr 102(9):844\u2013856. https:\/\/doi.org\/10.1111\/apa.12317","journal-title":"Acta Paediatr"},{"key":"1877_CR22","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1681\/ASN.2010010029","volume":"22","author":"TC Jungraithmayr","year":"2011","unstructured":"Jungraithmayr TC, Hofer K, Cochat P, Chernin G, Cortina G, Fargue S, Grimm P, Knueppel T, Kowarsch A, Neuhaus T, Pagel P, Pfeiffer KP, Sch\u00e4fer F, Sch\u00f6nermarck U, Seeman T, Toenshoff B, Weber S, WinnMP ZJ, Zimmerhackl LB (2011) Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. J Am Soc Nephrol 22:579\u2013585. https:\/\/doi.org\/10.1681\/ASN.2010010029","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"1877_CR23","doi-asserted-by":"publisher","first-page":"533","DOI":"10.5144\/0256-4947.2013.533","volume":"33","author":"JA Kari","year":"2013","unstructured":"Kari JA, El-Desoky SM, Gari M, Malik K, Vega-Warner V, Lovric S, Bockenhauer D (2013) Steroid-resistant nephrotic syndrome: impact of genetic testing. Ann Saudi Med 33(6):533\u2013538. https:\/\/doi.org\/10.5144\/0256-4947.2013.533","journal-title":"Ann Saudi Med"},{"key":"1877_CR24","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1007\/s00467-005-1965-y","volume":"20","author":"AT Lahdenkari","year":"2005","unstructured":"Lahdenkari AT, Suvanto M, Kajantie E, Koskimies O, Kestil\u00e4 M, Jalanko H (2005) Clinical features and outcome of childhood minimal change nephrotic syndrome: Is genetics involved? Pediatr Nephrol 20:1073\u20131080. https:\/\/doi.org\/10.1007\/s00467-005-1965-y","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"1877_CR25","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1086\/302182","volume":"64","author":"U Lenkkeri","year":"1999","unstructured":"Lenkkeri U, M\u00e4nnikk\u00f6 M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac CK, Kashtan CE, Homberg C, Olsen A, Kestil\u00e4 M, Tryggvason K (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64(1):51\u201361. https:\/\/doi.org\/10.1086\/302182","journal-title":"Am J Hum Genet"},{"issue":"2","key":"1877_CR26","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1093\/ckj\/sfx143","volume":"11","author":"N Lepori","year":"2018","unstructured":"Lepori N, Zand L, Sethi S, Fernandez-Juarez G, Fervenza FC (2018) Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. Clin Kidney J 11(2):179\u2013190. https:\/\/doi.org\/10.1093\/ckj\/sfx143","journal-title":"Clin Kidney J"},{"issue":"23","key":"1877_CR27","doi-asserted-by":"publisher","first-page":"2637","DOI":"10.1093\/hmg\/10.23.2637","volume":"10","author":"L Liu","year":"2001","unstructured":"Liu L, Don\u00e9 SC, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren PO, Tryggvason K (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Hum Mol Genet 10(23):2637\u20132644. https:\/\/doi.org\/10.1093\/hmg\/10.23.2637","journal-title":"Hum Mol Genet"},{"issue":"3","key":"1877_CR28","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1007\/s00467-012-2310-x","volume":"28","author":"RM Lombel","year":"2013","unstructured":"Lombel RM, Gipson DS, Hodson EM (2013) Treatment of steroid-sensitive nephrotic syndrome: new guidelines from KDIGO. Pediat Nephrol 28(3):415\u2013426. https:\/\/doi.org\/10.1007\/s00467-012-2310-x","journal-title":"Pediat Nephrol"},{"issue":"7","key":"1877_CR29","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1681\/ASN.2009121309","volume":"21","author":"E Machuca","year":"2010","unstructured":"Machuca E, Benoit G, Nevo F, T\u00eate MJ, Gribouval O, Pawtowski A, Brandstr\u00f6m P, Loirat C, Niaudet P, Gubler MC, Antignac C (2010) Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 21(7):1209\u20131217. https:\/\/doi.org\/10.1681\/ASN.2009121309","journal-title":"J Am Soc Nephrol"},{"key":"1877_CR30","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/s00467-010-1694-8","volume":"26","author":"IB Mbarek","year":"2011","unstructured":"Mbarek IB, Abroug S, Omezzine A, Pawtowski A, Gubler MC, Bouslama A, Harbi A, Antignac C (2011) Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children. Pediatr Nephrol 26:241\u2013249. https:\/\/doi.org\/10.1007\/s00467-010-1694-8","journal-title":"Pediatr Nephrol"},{"issue":"8","key":"1877_CR31","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1007\/s00467-009-1138-5","volume":"24","author":"D Mekahli","year":"2009","unstructured":"Mekahli D, Liutkus A, Ranchin B, Yu A, Bessenay L, Girardin E, Damme-Lombaerts RV, Palcoux J-B, Cachat F, Lavocat M-P, Bourdat-Michel G, Nobili F, Cochat P (2009) Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study. Pediatr Nephrol 24(8):1525\u20131532. https:\/\/doi.org\/10.1007\/s00467-009-1138-5","journal-title":"Pediatr Nephrol"},{"key":"1877_CR32","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/s41598-019-57149-5","volume":"10","author":"C Nagano","year":"2020","unstructured":"Nagano C, Yamamura T, Horinouchi T, Aoto Y, Ishiko S, Sakakibara N, Shima Y, Nakanishi K, Nagase H, Iijima K, Nozu K (2020) Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 10:270. https:\/\/doi.org\/10.1038\/s41598-019-57149-5","journal-title":"Sci Rep"},{"key":"1877_CR33","first-page":"543","volume-title":"Pediatric nephrology","author":"P Niaudet","year":"2004","unstructured":"Niaudet P (2004) Steroid sensitive idiopatic syndrome in children. In: Avner ED, Harmon WE (eds) Pediatric nephrology, 5th edn. Lippinccott Wiliams-Wilkins, Philadelphia, p 543","edition":"5"},{"issue":"10141","key":"1877_CR34","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/S0140-6736(18)30536-1","volume":"392","author":"DG Noone","year":"2018","unstructured":"Noone DG, Iijima K, Parekh R (2018) Idiopathic nephrotic syndrome in children. Lancet 392(10141):61\u201374. https:\/\/doi.org\/10.1016\/S0140-6736(18)30536-1","journal-title":"Lancet"},{"key":"1877_CR35","doi-asserted-by":"publisher","first-page":"1871","DOI":"10.1681\/ASN.2008010059","volume":"19","author":"A Philippe","year":"2008","unstructured":"Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tete MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C (2008) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol 19:1871\u20131878. https:\/\/doi.org\/10.1681\/ASN.2008010059","journal-title":"J Am Soc Nephrol"},{"key":"1877_CR36","first-page":"1233","volume":"4","author":"R Renda","year":"2016","unstructured":"Renda R, Aydo\u011f \u00d6, B\u00fclb\u00fcl M, \u00c7ak\u0131c\u0131 EK (2016) Children with steroid-resistant nephrotic syndrome: a single-center study. Int J Pediatr 4:1233\u20131242","journal-title":"Int J Pediatr"},{"key":"1877_CR37","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1097\/01.asn.0000113552.59155.72","volume":"15","author":"Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf E-M, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F, Arbeitsgemeinschaft F\u00fcr P\u00e4diatrische Nephrologie Study Group","year":"2004","unstructured":"Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf E-M, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F, Arbeitsgemeinschaft F\u00fcr P\u00e4diatrische Nephrologie Study Group (2004) Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722\u2013732. https:\/\/doi.org\/10.1097\/01.asn.0000113552.59155.72","journal-title":"J Am Soc Nephrol"},{"issue":"6","key":"1877_CR38","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/ASN.2014050489","volume":"26","author":"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; SRNS Study Group, Hildebrandt F","year":"2015","unstructured":"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; SRNS Study Group, Hildebrandt F (2015) A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 26(6):1279\u20131289. https:\/\/doi.org\/10.1681\/ASN.2014050489","journal-title":"J Am Soc Nephrol"},{"key":"1877_CR52","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1111\/j.1523-1755.2005.00202.x","volume":"67","author":"M Sako","year":"2005","unstructured":"Sako M, Nakanishi K, Obana M, Yata N, Hoshii S, Takahashi S et al (2005) Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 67:1248\u20131255. https:\/\/doi.org\/10.1111\/j.1523-1755.2005.00202.x","journal-title":"Kidney Int"},{"issue":"12","key":"1877_CR39","doi-asserted-by":"publisher","first-page":"2814","DOI":"10.1097\/TP.0000000000001897","volume":"101","author":"MG Sampson","year":"2017","unstructured":"Sampson MG (2017) The democratization of genomic inquiry empowers our understanding of nephrotic syndrome. Transplantation 101(12):2814\u20132815. https:\/\/doi.org\/10.1097\/TP.0000000000001897","journal-title":"Transplantation"},{"key":"1877_CR40","doi-asserted-by":"publisher","first-page":"1268","DOI":"10.1038\/ki.2009.381","volume":"76","author":"S Santin","year":"2009","unstructured":"Santin S, Garcia-Maset R, Ruiz P, Gimenez I, Zamora I, Pena A, Madrid A, Camacho JA, Fraga G, Sanchez-Moreno A, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Pintos G, Justa ML, Hidalgo-Barquero E, Fernandez-Llama P, Ballarin J, Ars E, Torra R (2009) Nephrin mutations cause childhood- and adult onset focal segmental glomerulosclerosis. Kidney Int 76:1268\u20131276. https:\/\/doi.org\/10.1038\/ki.2009.381","journal-title":"Kidney Int"},{"key":"1877_CR41","doi-asserted-by":"publisher","first-page":"344","DOI":"10.2215\/CJN.03770410","volume":"6","author":"Santin S, Tazon-Vega B, Silva I, Cobo MA, Gimenez I, Ruiz P, Garc\u00eda-Maset R, Ballar\u00edn J, Torra R, Ars E; FSGS Spanish Study Group","year":"2011","unstructured":"Santin S, Tazon-Vega B, Silva I, Cobo MA, Gimenez I, Ruiz P, Garc\u00eda-Maset R, Ballar\u00edn J, Torra R, Ars E; FSGS Spanish Study Group (2011) Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephritic syndrome. Clin J Am Soc Nephrol 6:344\u2013354. https:\/\/doi.org\/10.2215\/CJN.03770410","journal-title":"Clin J Am Soc Nephrol"},{"key":"1877_CR42","first-page":"165","volume":"13","author":"N Serajpour","year":"2019","unstructured":"Serajpour N, Karimi B, Khosravi P, Hooman N, Hosseini R, Shojaei A (2019) Molecular genetic analysis of steroid resistant nephrotic syndrome, detection of a novel mutation. Iran J Kidney Dis 13:165\u2013172","journal-title":"Iran J Kidney Dis"},{"issue":"3","key":"1877_CR43","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1515\/prilozi-2015-0073","volume":"36","author":"V Tasic","year":"2015","unstructured":"Tasic V, Gucev Z, Polenakovic M (2015) Steroid resistant nephrotic syndrome-genetic consideration. Pril (makedon Akad Nauk Umet Odd Med Nauki) 36(3):5\u201312. https:\/\/doi.org\/10.1515\/prilozi-2015-0073","journal-title":"Pril (makedon Akad Nauk Umet Odd Med Nauki)"},{"key":"1877_CR44","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.jfma.2017.02.012","volume":"117","author":"MM Thomas","year":"2017","unstructured":"Thomas MM, Abdel-Hamid MS, Mahfouz NN, Ghobrial EE (2017) Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome. J Formos Med Assoc 117:48\u201353. https:\/\/doi.org\/10.1016\/j.jfma.2017.02.012","journal-title":"J Formos Med Assoc"},{"key":"1877_CR45","doi-asserted-by":"publisher","unstructured":"Trautmann A, Bodria M, Ozaltin F, Gheisari\u00a0A,\u00a0Melk A,\u00a0Azocar M,\u00a0Anarat A,\u00a0Caliskan S,\u00a0Emma\u00a0F,\u00a0Gellermann\u00a0J,\u00a0Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, et al., PodoNet Consortium (2015) Spectrum of steroid-resistant and congenital nephritic syndrome in children: the PodoNet registry cohort. Clin J Am Soc Nephrol 10:592\u2013600. https:\/\/doi.org\/10.2215\/CJN.06260614.","DOI":"10.2215\/CJN.06260614"},{"issue":"10","key":"1877_CR46","doi-asserted-by":"publisher","first-page":"3055","DOI":"10.1681\/ASN.2016101121","volume":"28","author":"A Trautmann","year":"2017","unstructured":"Trautmann A, Schnaidt S, Lipska-Zietkiewicz BS, Bodria M, Ozaltin F, Emma F, Anarat A, Melk A, Azocar M, Oh J, Saeed B, Gheisari A, Caliskan S, Gellermann J, Higuita LMS, Jankauskiene A, Drozdz D, Mir S, Balat A, Szczepanska M, Paripovic D et al (2017) Long-term outcome of steroid-resistant nephrotic syndrome in children. J Am Soc Nephrol 28(10):3055\u20133065. https:\/\/doi.org\/10.1681\/ASN.2016101121","journal-title":"J Am Soc Nephrol"},{"key":"1877_CR47","doi-asserted-by":"publisher","first-page":"1659","DOI":"10.1172\/JCI16242","volume":"110","author":"H Tsukaguchi","year":"2002","unstructured":"Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR (2002) NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease associated allele. J Clin Invest 110:1659\u20131666. https:\/\/doi.org\/10.1172\/JCI16242","journal-title":"J Clin Invest"},{"issue":"12","key":"1877_CR48","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1016\/S2352-4642(18)30283-9","volume":"2","author":"K Tullus","year":"2018","unstructured":"Tullus K, Webb H, Bagga A (2018) Management of steroid resistant nephrotic syndrome in children and adolescents. Lancet Child Adolesc Health 2(12):880\u2013890. https:\/\/doi.org\/10.1016\/S2352-4642(18)30283-9","journal-title":"Lancet Child Adolesc Health"},{"key":"1877_CR49","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1007\/s13312-012-0057-x","volume":"49","author":"A Vasudevan","year":"2012","unstructured":"Vasudevan A, Siji A, Raghavendra A, Sridhar TS, Phadke KD (2012) NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. Indian Pediatr 49:231\u2013233. https:\/\/doi.org\/10.1007\/s13312-012-0057-x","journal-title":"Indian Pediatr"},{"key":"1877_CR50","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1007\/s00467-017-3590-y","volume":"32","author":"F Wang","year":"2017","unstructured":"Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F (2017) Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 32:1181\u20131192. https:\/\/doi.org\/10.1007\/s00467-017-3590-y","journal-title":"Pediatr Nephrol"},{"key":"1877_CR51","doi-asserted-by":"publisher","first-page":"53","DOI":"10.2215\/CJN.04120417","volume":"13","author":"JK Warejko","year":"2018","unstructured":"Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T et al (2018) Whole exome sequencing of patients with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 13:53\u201362. https:\/\/doi.org\/10.2215\/CJN.04120417","journal-title":"Clin J Am Soc Nephrol"},{"key":"1877_CR53","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1093\/ndt\/gfh769","volume":"20","author":"Z Yu","year":"2005","unstructured":"Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, Liu J, Yang J (2005) Mutations in NPHS2 in sporadic steroid resistant nephritic syndrome in Chinese children. Nephrol Dial Transplant 20:902\u2013908. https:\/\/doi.org\/10.1093\/ndt\/gfh769","journal-title":"Nephrol Dial Transplant"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-022-01877-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-022-01877-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-022-01877-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T03:53:05Z","timestamp":1653450785000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-022-01877-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,12]]},"references-count":53,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["1877"],"URL":"https:\/\/doi.org\/10.1007\/s00438-022-01877-3","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,12]]},"assertion":[{"value":"22 September 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 February 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 March 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflicts of interest to declare that are relevant to the content of this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was approved by the ethical scientific of the National Research Centre (NRC), Cairo, Egypt and was conducted in accordance with the NRC bylaws for human research. It conforms to the provisions of the Declaration of Helsinki in 2000.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"An informed consent to participate in the study was obtained from all the patients or their parents.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Patients or their legal guardians have signed informed consent regarding publishing their data.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}