{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:59:15Z","timestamp":1753891155459,"version":"3.41.2"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T00:00:00Z","timestamp":1600214400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2020.533373","type":"journal-article","created":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T05:47:12Z","timestamp":1600235232000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q\/R291W Podocin Mutations"],"prefix":"10.3389","volume":"11","author":[{"given":"Michelle T. P.","family":"Riguetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patr\u00edcia","family":"Varela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danilo E.","family":"Fernandes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Goretti","family":"Polito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda M.","family":"Casimiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o B.","family":"Pesquero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianna","family":"Mastroianni-Kirsztajn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,9,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2905","DOI":"10.1097\/TP.0000000000001846","article-title":"Targeted next-generation sequencing in brazilian children with nephrotic syndrome submitted to renal transplant.","volume":"101","author":"Feltran","year":"2017","journal-title":"Transplantation"},{"key":"B2","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1038\/nrneph.2014.216","article-title":"Causes and pathogenesis of focal segmental glomerulosclerosis.","volume":"11","author":"Fogo","year":"2015","journal-title":"Nat. Rev. Nephrol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"31","DOI":"10.2215\/CJN.02690806","article-title":"Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.","volume":"2","author":"He","year":"2007","journal-title":"Clin. J. Am. Soc. Nephrol. CJASN"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1477","DOI":"10.1007\/s00467-015-3109-3","article-title":"Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible.","volume":"30","author":"Klaassen","year":"2015","journal-title":"Pediatr. Nephrol. Berl. Ger."},{"key":"B5","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1053\/j.ajkd.2008.02.306","article-title":"The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults.","volume":"52","author":"K\u00f6ttgen","year":"2008","journal-title":"Am. J. Kidney Dis. Off. J. Natl. Kidney Found."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1854","DOI":"10.1002\/humu.23660","article-title":"The mutation-dependent pathogenicity of NPHS2 p.R229Q: a guide for clinical assessment.","volume":"39","author":"Mik\u00f3","year":"2018","journal-title":"Hum. Mutat."},{"key":"B7","first-page":"366","article-title":"NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis.","volume":"19","author":"Monteiro","year":"2006","journal-title":"J. Nephrol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.1111\/j.1523-1755.2004.00898.x","article-title":"Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.","volume":"66","author":"Nishibori","year":"2004","journal-title":"Kidney Int."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1111\/j.1523-1755.2004.00479.x","article-title":"NPHS2 R229Q functional variant is associated with microalbuminuria in the general population.","volume":"65","author":"Pereira","year":"2004","journal-title":"Kidney Int."},{"key":"B10","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1093\/ndt\/gfp355","article-title":"An overview on frequency of renal biopsy diagnosis in Brazil: clinical and pathological patterns based on 9,617 native kidney biopsies.","volume":"25","author":"Polito","year":"2010","journal-title":"Nephrol. Dial. Transplant. Off. Publ. Eur. Dial. Transpl. Assoc. Eur. Ren. Assoc."},{"key":"B11","doi-asserted-by":"publisher","first-page":"3016","DOI":"10.1097\/01.asn.0000039569.34360.5e","article-title":"Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint.","volume":"13","author":"Pollak","year":"2002","journal-title":"J. Am. Soc. Nephrol. JASN"},{"key":"B12","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1053\/j.ackd.2014.06.001","article-title":"Familial FSGS.","volume":"21","author":"Pollak","year":"2014","journal-title":"Adv. Chronic Kidney Dis."},{"key":"B13","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s00467-017-3838-6","article-title":"Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?","volume":"34","author":"Preston","year":"2019","journal-title":"Pediatr. Nephrol. Berl. Ger."},{"key":"B14","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.","volume":"26","author":"Sadowski","year":"2015","journal-title":"J. Am. Soc. Nephrol. JASN"},{"key":"B15","doi-asserted-by":"publisher","first-page":"2448","DOI":"10.1016\/j.bbadis.2018.04.008","article-title":"C-terminal oligomerization of podocin mediates interallelic interactions.","volume":"1864","author":"Str\u00e1ner","year":"2018","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2369-9-13","article-title":"NPHS2 variation in focal and segmental glomerulosclerosis.","volume":"9","author":"Tonna","year":"2008","journal-title":"BMC Nephrol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/ng.2898","article-title":"Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.","volume":"46","author":"Tory","year":"2014","journal-title":"Nat. Genet."},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-018-1025-z","article-title":"A large, international study on post-transplant glomerular diseases: the TANGO project.","volume":"19","author":"Uffing","year":"2018","journal-title":"BMC Nephrol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1111\/j.1523-1755.2004.00840.x","article-title":"In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.","volume":"66","author":"Zhang","year":"2004","journal-title":"Kidney Int."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.533373\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T05:47:14Z","timestamp":1600235234000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.533373\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,16]]},"references-count":19,"alternative-id":["10.3389\/fgene.2020.533373"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2020.533373","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2020,9,16]]},"article-number":"533373"}}