{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T07:08:18Z","timestamp":1773904098641,"version":"3.50.1"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T00:00:00Z","timestamp":1397001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int Urol Nephrol"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1007\/s11255-014-0676-3","type":"journal-article","created":{"date-parts":[[2014,4,8]],"date-time":"2014-04-08T12:54:43Z","timestamp":1396961683000},"page":"1383-1393","source":"Crossref","is-referenced-by-count":8,"title":["The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis"],"prefix":"10.1007","volume":"46","author":[{"given":"Lu","family":"Lu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heng","family":"Wan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Yin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Jun","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Cong","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Tao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lian-Bo","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,4,9]]},"reference":[{"issue":"12","key":"676_CR1","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1007\/s004670100021","volume":"16","author":"PA McKinney","year":"2001","unstructured":"McKinney PA, Feltbower RG, Brocklebank JT et al (2001) Time trends and ethnic patterns of childhood nephrotic syndrome in Yorkshire. UK. Pediatr Nephrol 16(12):1040\u20131044","journal-title":"UK. Pediatr Nephrol"},{"issue":"4","key":"676_CR2","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1007\/s00467-011-2084-6","volume":"27","author":"K Voskarides","year":"2012","unstructured":"Voskarides K, Arsali M, Athanasiou Y et al (2012) Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria. Pediatr Nephrol 27(4):675\u2013679","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"676_CR3","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10157-008-0061-6","volume":"12","author":"K Iseki","year":"2008","unstructured":"Iseki K, Tokashiki K, Iseki C et al (2008) Proteinuria and decreased body mass index as a significant risk factor in developing end-stage renal disease. Clin Exp Nephrol 12(5):363\u2013369","journal-title":"Clin Exp Nephrol"},{"issue":"8","key":"676_CR4","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1007\/s00467-009-1138-5","volume":"24","author":"D Mekahli","year":"2009","unstructured":"Mekahli D, Liutkus A, Ranchin B et al (2009) Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study. Pediatr Nephrol 24(8):1525\u20131532","journal-title":"Pediatr Nephrol"},{"key":"676_CR5","doi-asserted-by":"crossref","unstructured":"Sgambat K, Banks M, Moudgil A. Effect of galactose on glomerular permeability and proteinuria in steroid-resistant nephrotic syndrome. Pediatr Nephrol 2013","DOI":"10.1007\/s00467-013-2539-z"},{"issue":"8","key":"676_CR6","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1097\/01.ASN.0000135051.62500.97","volume":"15","author":"MJ Chun","year":"2004","unstructured":"Chun MJ, Korbet SM, Schwartz MM et al (2004) Focal segmental glomerulosclerosis in nephrotic adults: presentation, prognosis, and response to therapy of the histologic variants. J Am Soc Nephrol 15(8):2169\u20132177","journal-title":"J Am Soc Nephrol"},{"issue":"12","key":"676_CR7","doi-asserted-by":"crossref","first-page":"2051","DOI":"10.1681\/ASN.2012030302","volume":"23","author":"C Wei","year":"2012","unstructured":"Wei C, Trachtman H, Li J et al (2012) Circulating suPAR in two cohorts of primary FSGS. J Am Soc Nephrol 23(12):2051\u20132059","journal-title":"J Am Soc Nephrol"},{"issue":"11","key":"676_CR8","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.2215\/CJN.01190210","volume":"5","author":"AK Buscher","year":"2010","unstructured":"Buscher AK, Kranz B, Buscher R et al (2010) Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 5(11):2075\u20132084","journal-title":"Clin J Am Soc Nephrol"},{"issue":"15","key":"676_CR9","doi-asserted-by":"crossref","first-page":"12027","DOI":"10.1074\/jbc.M112.345421","volume":"287","author":"S Khurana","year":"2012","unstructured":"Khurana S, Chakraborty S, Lam M et al (2012) Familial focal segmental glomerulosclerosis (FSGS)-linked alpha-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. J Biol Chem 287(15):12027\u201312035","journal-title":"J Biol Chem"},{"issue":"8","key":"676_CR10","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.bbadis.2007.03.005","volume":"1772","author":"N Mukerji","year":"2007","unstructured":"Mukerji N, Damodaran TV, Winn MP (2007) TRPC6 and FSGS: the latest TRP channelopathy. Biochim Biophys Acta 1772(8):859\u2013868","journal-title":"Biochim Biophys Acta"},{"issue":"6","key":"676_CR11","doi-asserted-by":"crossref","first-page":"1858","DOI":"10.1093\/ndt\/gfn712","volume":"24","author":"M Gigante","year":"2009","unstructured":"Gigante M, Pontrelli P, Montemurno E et al (2009) CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). Nephrol Dial Transplant 24(6):1858\u20131864","journal-title":"Nephrol Dial Transplant"},{"issue":"2","key":"676_CR12","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1681\/ASN.2010121293","volume":"22","author":"Y Pei","year":"2011","unstructured":"Pei Y (2011) INF2 is another piece of the jigsaw puzzle for FSGS. J Am Soc Nephrol 22(2):197\u2013199","journal-title":"J Am Soc Nephrol"},{"key":"676_CR13","unstructured":"steroidsAnochie IC, Eke FU, Okpere AN. Familial Focal Segmental Glomerulosclerosis (FSGS) in a Nigerian Family and Exclusion of Mutations in NPHS2,WT1 and APOL1. West Afr J Med 2012;31(4):273-276"},{"issue":"4","key":"676_CR14","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","volume":"24","author":"N Boute","year":"2000","unstructured":"Boute N, Gribouval O, Roselli S et al (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24(4):349\u2013354","journal-title":"Nat Genet"},{"issue":"11","key":"676_CR15","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1172\/JCI0216242","volume":"110","author":"H Tsukaguchi","year":"2002","unstructured":"Tsukaguchi H, Sudhakar A, Le TC et al (2002) NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest 110(11):1659\u20131666","journal-title":"J Clin Invest"},{"issue":"3","key":"676_CR16","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1111\/j.1523-1755.2004.00840.x","volume":"66","author":"SY Zhang","year":"2004","unstructured":"Zhang SY, Marlier A, Gribouval O et al (2004) In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. Kidney Int 66(3):945\u2013954","journal-title":"Kidney Int"},{"issue":"2","key":"676_CR17","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1681\/ASN.V132388","volume":"13","author":"SM Karle","year":"2002","unstructured":"Karle SM, Uetz B, Ronner V et al (2002) Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 13(2):388\u2013393","journal-title":"J Am Soc Nephrol"},{"issue":"7","key":"676_CR18","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ki.2008.650","volume":"75","author":"E Machuca","year":"2009","unstructured":"Machuca E, Hummel A, Nevo F et al (2009) Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int 75(7):727\u2013735","journal-title":"Kidney Int"},{"issue":"5","key":"676_CR19","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.2215\/CJN.05260610","volume":"6","author":"S Santin","year":"2011","unstructured":"Santin S, Bullich G, Tazon-Vega B et al (2011) Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 6(5):1139\u20131148","journal-title":"Clin J Am Soc Nephrol"},{"issue":"2","key":"676_CR20","doi-asserted-by":"crossref","first-page":"64","DOI":"10.14712\/fb2012058020064","volume":"58","author":"J Reiterova","year":"2012","unstructured":"Reiterova J, Safrankova H, Obeidova L et al (2012) Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome. Folia Biol (Praha) 58(2):64\u201368","journal-title":"Folia Biol (Praha)"},{"issue":"11","key":"676_CR21","doi-asserted-by":"crossref","first-page":"2987","DOI":"10.1681\/ASN.2007030319","volume":"18","author":"LM McKenzie","year":"2007","unstructured":"McKenzie LM, Hendrickson SL, Briggs WA et al (2007) NPHS2 variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol 18(11):2987\u20132995","journal-title":"J Am Soc Nephrol"},{"issue":"2","key":"676_CR22","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1037\/1082-989X.11.2.193","volume":"11","author":"TB Huedo-Medina","year":"2006","unstructured":"Huedo-Medina TB, Sanchez-Meca J, Marin-Martinez F et al (2006) Assessing heterogeneity in meta-analysis: Q statistic or I2 index? Psychol Methods 11(2):193\u2013206","journal-title":"Psychol Methods"},{"issue":"5","key":"676_CR23","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1093\/ndt\/gfh769","volume":"20","author":"Z Yu","year":"2005","unstructured":"Yu Z, Ding J, Huang J et al (2005) Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrol Dial Transplant 20(5):902\u2013908","journal-title":"Nephrol Dial Transplant"},{"key":"676_CR24","doi-asserted-by":"crossref","unstructured":"Xia Y, Mao J, Jin X, et al. Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China. Clinics (Sao Paulo) 2013;68(5)","DOI":"10.6061\/clinics\/2013(05)08"},{"issue":"5","key":"676_CR25","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/s00467-003-1120-6","volume":"18","author":"K Maruyama","year":"2003","unstructured":"Maruyama K, Iijima K, Ikeda M et al (2003) NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol 18(5):412\u2013416","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"676_CR26","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1203\/01.pdr.0000250041.19306.3d","volume":"61","author":"J Mao","year":"2007","unstructured":"Mao J, Zhang Y, Du L et al (2007) NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatr Res 61(1):117\u2013122","journal-title":"Pediatr Res"},{"issue":"1","key":"676_CR27","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s00467-007-0620-1","volume":"23","author":"HY Cho","year":"2008","unstructured":"Cho HY, Lee JH, Choi HJ et al (2008) WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23(1):63\u201370","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"676_CR28","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1038\/ki.2013.93","volume":"84","author":"BS Lipska","year":"2013","unstructured":"Lipska BS, Iatropoulos P, Maranta R et al (2013) Genetic screening in adolescents with steroid-resistant nephrotic syndrome. Kidney Int 84(1):206\u2013213","journal-title":"Kidney Int"},{"issue":"2","key":"676_CR29","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00467-009-1315-6","volume":"25","author":"G Chernin","year":"2010","unstructured":"Chernin G, Heeringa SF, Vega-Warner V et al (2010) Adequate use of allele frequencies in Hispanics\u2013a problem elucidated in nephrotic syndrome. Pediatr Nephrol 25(2):261\u2013266","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"676_CR30","doi-asserted-by":"crossref","first-page":"47","DOI":"10.5414\/CN107320","volume":"78","author":"AK Buscher","year":"2012","unstructured":"Buscher AK, Konrad M, Nagel M et al (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. Clin Nephrol 78(1):47\u201353","journal-title":"Clin Nephrol"},{"issue":"4","key":"676_CR31","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1017\/S095457940700051X","volume":"19","author":"A Taylor","year":"2007","unstructured":"Taylor A, Kim-Cohen J (2007) Meta-analysis of gene-environment interactions in developmental psychopathology. Dev Psychopathol 19(4):1029\u20131037","journal-title":"Dev Psychopathol"},{"issue":"2","key":"676_CR32","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1097\/01.gim.0000200947.09626.1c","volume":"8","author":"N Franceschini","year":"2006","unstructured":"Franceschini N, North KE, Kopp JB et al (2006) NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet Med 8(2):63\u201375","journal-title":"Genet Med"},{"issue":"4","key":"676_CR33","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/hmg\/11.4.379","volume":"11","author":"A Koziell","year":"2002","unstructured":"Koziell A, Grech V, Hussain S et al (2002) Genotype\/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11(4):379\u2013388","journal-title":"Hum Mol Genet"},{"issue":"2","key":"676_CR34","doi-asserted-by":"crossref","first-page":"344","DOI":"10.2215\/CJN.03770410","volume":"6","author":"S Santin","year":"2011","unstructured":"Santin S, Tazon-Vega B, Silva I et al (2011) Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 6(2):344\u2013354","journal-title":"Clin J Am Soc Nephrol"},{"issue":"10","key":"676_CR35","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1007\/s00467-013-2542-4","volume":"28","author":"A Kerti","year":"2013","unstructured":"Kerti A, Csohany R, Wagner L et al (2013) NPHS2 homozygous p. R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. Pediatr Nephrol 28(10):2061\u20132064","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"676_CR36","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1053\/j.ajkd.2008.02.306","volume":"52","author":"A Kottgen","year":"2008","unstructured":"Kottgen A, Hsu CC, Coresh J et al (2008) The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. Am J Kidney Dis 52(5):868\u2013875","journal-title":"Am J Kidney Dis"},{"issue":"1","key":"676_CR37","doi-asserted-by":"crossref","first-page":"31","DOI":"10.2215\/CJN.02690806","volume":"2","author":"N He","year":"2007","unstructured":"He N, Zahirieh A, Mei Y et al (2007) Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol 2(1):31\u201337","journal-title":"Clin J Am Soc Nephrol"},{"key":"676_CR38","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1471-2369-9-13","volume":"9","author":"SJ Tonna","year":"2008","unstructured":"Tonna SJ, Needham A, Polu K et al (2008) NPHS2 variation in focal and segmental glomerulosclerosis. BMC Nephrol 9:13","journal-title":"BMC Nephrol"},{"issue":"2","key":"676_CR39","doi-asserted-by":"crossref","first-page":"c31","DOI":"10.1159\/000082864","volume":"99","author":"F Aucella","year":"2005","unstructured":"Aucella F, De Bonis P, Gatta G et al (2005) Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. Nephron Clin Pract 99(2):c31\u2013c36","journal-title":"Nephron Clin Pract"},{"issue":"4","key":"676_CR40","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s00467-006-0377-y","volume":"22","author":"R Gbadegesin","year":"2007","unstructured":"Gbadegesin R, Hinkes B, Vlangos C et al (2007) Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol 22(4):509\u2013513","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"676_CR41","doi-asserted-by":"crossref","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 et al (2012) A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene 502(2):133\u2013137","journal-title":"Gene"},{"issue":"12","key":"676_CR42","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1007\/s00467-007-0595-y","volume":"22","author":"A Berdeli","year":"2007","unstructured":"Berdeli A, Mir S, Yavascan O et al (2007) NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol 22(12):2031\u20132040","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"676_CR43","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1097\/01.ASN.0000060578.79050.E0","volume":"14","author":"G Caridi","year":"2003","unstructured":"Caridi G, Bertelli R, Di Duca M et al (2003) Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 14(5):1278\u20131286","journal-title":"J Am Soc Nephrol"},{"issue":"2","key":"676_CR44","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/j.1523-1755.2004.00776.x","volume":"66","author":"S Weber","year":"2004","unstructured":"Weber S, Gribouval O, Esquivel EL et al (2004) NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66(2):571\u2013579","journal-title":"Kidney Int"},{"issue":"3","key":"676_CR45","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1097\/01.ASN.0000113552.59155.72","volume":"15","author":"RG Ruf","year":"2004","unstructured":"Ruf RG, Lichtenberger A, Karle SM et al (2004) Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15(3):722\u2013732","journal-title":"J Am Soc Nephrol"}],"container-title":["International Urology and Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11255-014-0676-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11255-014-0676-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11255-014-0676-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T09:15:00Z","timestamp":1746177300000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11255-014-0676-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,9]]},"references-count":45,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["676"],"URL":"https:\/\/doi.org\/10.1007\/s11255-014-0676-3","relation":{},"ISSN":["0301-1623","1573-2584"],"issn-type":[{"value":"0301-1623","type":"print"},{"value":"1573-2584","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,9]]}}}