{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:25:23Z","timestamp":1790472323484,"version":"4.1.0"},"reference-count":47,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1681\/asn.2013101053","type":"journal-article","created":{"date-parts":[[2014,8,21]],"date-time":"2014-08-21T22:35:36Z","timestamp":1408660536000},"page":"831-843","source":"Crossref","is-referenced-by-count":44,"title":["A Novel Missense Mutation of Wilms\u2019 Tumor 1 Causes Autosomal Dominant FSGS"],"prefix":"10.1681","volume":"26","author":[{"given":"Gentzon","family":"Hall","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasheed A.","family":"Gbadegesin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lavin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanghong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangfan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin C.","family":"Oh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F.","family":"Spurney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Eckel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Lindsey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Homstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew F.","family":"Malone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Phelan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrey","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Howell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Conlon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Katsanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle P.","family":"Winn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20230208","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5414\/CNP63001","article-title":"Increasing incidence of focal segmental glomerulosclerosis and an examination of demographic patterns.","volume":"63","author":"Dragovic","year":"2005","journal-title":"Clin Nephrol"},{"key":"R2-12-20230208","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s00467-006-0370-5","article-title":"Focal segmental glomerulosclerosis\u2014epidemiology aspects in children and adults.","volume":"22","author":"Hogg","year":"2007","journal-title":"Pediatr Nephrol"},{"key":"R3-12-20230208","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1126\/science.1106215","article-title":"A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.","volume":"308","author":"Winn","year":"2005","journal-title":"Science"},{"key":"R4-12-20230208","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1681\/ASN.2010050518","article-title":"Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.","volume":"22","author":"Boyer","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"R5-12-20230208","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1038\/ki.2009.381","article-title":"Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.","volume":"76","author":"Sant\u00edn","year":"2009","journal-title":"Kidney Int"},{"key":"R6-12-20230208","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1172\/JCI0216242","article-title":"NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.","volume":"110","author":"Tsukaguchi","year":"2002","journal-title":"J Clin Invest"},{"key":"R7-12-20230208","doi-asserted-by":"crossref","first-page":"e167","DOI":"10.1371\/journal.pbio.0020167","article-title":"Alpha-actinin-4-mediated FSGS: An inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein.","volume":"2","author":"Yao","year":"2004","journal-title":"PLoS Biol"},{"key":"R8-12-20230208","doi-asserted-by":"crossref","first-page":"1858","DOI":"10.1093\/ndt\/gfn712","article-title":"CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).","volume":"24","author":"Gigante","year":"2009","journal-title":"Nephrol Dial Transplant"},{"key":"R9-12-20230208","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00467-003-1372-1","article-title":"Slow progressive FSGS associated with an F392L WT1 mutation.","volume":"19","author":"Kaltenis","year":"2004","journal-title":"Pediatr Nephrol"},{"key":"R10-12-20230208","doi-asserted-by":"crossref","first-page":"698","DOI":"10.2215\/CJN.05670809","article-title":"A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.","volume":"5","author":"Benetti","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"R11-12-20230208","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1007\/s00467-006-0208-1","article-title":"WT1 and glomerular diseases.","volume":"21","author":"Niaudet","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"R12-12-20230208","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1203\/01.pdr.0000196717.94518.f0","article-title":"Mutations in the Wilms\u2019 tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.","volume":"59","author":"Mucha","year":"2006","journal-title":"Pediatr Res"},{"key":"R13-12-20230208","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1016\/S0960-9822(01)00560-7","article-title":"WT1 regulates the expression of the major glomerular podocyte membrane protein Podocalyxin.","volume":"11","author":"Palmer","year":"2001","journal-title":"Curr Biol"},{"key":"R14-12-20230208","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1097\/01.ASN.0000143474.91362.C4","article-title":"WT1 activates a glomerular-specific enhancer identified from the human nephrin gene.","volume":"15","author":"Guo","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"R15-12-20230208","doi-asserted-by":"crossref","first-page":"9899","DOI":"10.1128\/MCB.24.22.9899-9910.2004","article-title":"The Wt1+\/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome.","volume":"24","author":"Gao","year":"2004","journal-title":"Mol Cell Biol"},{"key":"R16-12-20230208","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/ddp462","article-title":"A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.","volume":"19","author":"Ratelade","year":"2010","journal-title":"Hum Mol Genet"},{"key":"R17-12-20230208","doi-asserted-by":"crossref","first-page":"F12","DOI":"10.1152\/ajprenal.00597.2007","article-title":"New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes.","volume":"295","author":"Morrison","year":"2008","journal-title":"Am J Physiol Renal Physiol"},{"key":"R18-12-20230208","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1093\/ndt\/gfm759","article-title":"Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).","volume":"23","author":"Gbadegesin","year":"2008","journal-title":"Nephrol Dial Transplant"},{"key":"R19-12-20230208","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.2215\/CJN.09351209","article-title":"Genotype\/phenotype correlation in nephrotic syndrome caused by WT1 mutations.","volume":"5","author":"Chernin","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"R20-12-20230208","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/ajmg.a.30015","article-title":"Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype\/phenotype correlations for Wilms tumor development.","volume":"127A","author":"Royer-Pokora","year":"2004","journal-title":"Am J Med Genet A"},{"key":"R21-12-20230208","doi-asserted-by":"crossref","first-page":"2219","DOI":"10.1681\/ASN.V10102219","article-title":"Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.","volume":"10","author":"Denamur","year":"1999","journal-title":"J Am Soc Nephrol"},{"key":"R22-12-20230208","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1126\/science.286.5438.312","article-title":"Congenital nephrotic syndrome in mice lacking CD2-associated protein.","volume":"286","author":"Shih","year":"1999","journal-title":"Science"},{"key":"R23-12-20230208","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","article-title":"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.","volume":"24","author":"Boute","year":"2000","journal-title":"Nat Genet"},{"key":"R24-12-20230208","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/73456","article-title":"Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.","volume":"24","author":"Kaplan","year":"2000","journal-title":"Nat Genet"},{"key":"R25-12-20230208","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/ng1918","article-title":"Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.","volume":"38","author":"Hinkes","year":"2006","journal-title":"Nat Genet"},{"key":"R26-12-20230208","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1086\/344344","article-title":"Detecting polymorphisms and mutations in candidate genes.","volume":"71","author":"Collins","year":"2002","journal-title":"Am J Hum Genet"},{"key":"R27-12-20230208","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/10.6.591","article-title":"Prediction of deleterious human alleles.","volume":"10","author":"Sunyaev","year":"2001","journal-title":"Hum Mol Genet"},{"key":"R28-12-20230208","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"R29-12-20230208","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: Predicting effects of amino acid substitutions on proteins.","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"R30-12-20230208","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ydbio.2007.06.022","article-title":"The Wilms tumor genes wt1a and wt1b control different steps during formation of the zebrafish pronephros.","volume":"309","author":"Perner","year":"2007","journal-title":"Dev Biol"},{"key":"R31-12-20230208","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/dvdy.20645","article-title":"Identification and comparative expression analysis of a second wt1 gene in zebrafish.","volume":"235","author":"Bollig","year":"2006","journal-title":"Dev Dyn"},{"key":"R32-12-20230208","doi-asserted-by":"crossref","first-page":"F1746","DOI":"10.1152\/ajprenal.00009.2007","article-title":"Rapid screening of glomerular slit diaphragm integrity in larval zebrafish.","volume":"293","author":"Hentschel","year":"2007","journal-title":"Am J Physiol Renal Physiol"},{"key":"R33-12-20230208","doi-asserted-by":"crossref","first-page":"29559","DOI":"10.1074\/jbc.M505842200","article-title":"Endogenous TRPC1, TRPC3, and TRPC7 proteins combine to form native store-operated channels in HEK-293 cells.","volume":"280","author":"Zagranichnaya","year":"2005","journal-title":"J Biol Chem"},{"key":"R34-12-20230208","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s11684-008-0007-0","article-title":"Effects of podocin transfection on CD2AP distribution in HEK293 cells.","volume":"2","author":"Sha","year":"2008","journal-title":"Front Med China"},{"key":"R35-12-20230208","doi-asserted-by":"crossref","first-page":"30183","DOI":"10.1074\/jbc.M203072200","article-title":"Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.","volume":"277","author":"Patrie","year":"2002","journal-title":"J Biol Chem"},{"key":"R36-12-20230208","doi-asserted-by":"crossref","first-page":"4917","DOI":"10.1128\/MCB.23.14.4917-4928.2003","article-title":"Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling.","volume":"23","author":"Huber","year":"2003","journal-title":"Mol Cell Biol"},{"key":"R37-12-20230208","doi-asserted-by":"crossref","first-page":"3044","DOI":"10.1097\/01.ASN.0000146687.99058.25","article-title":"The major podocyte protein nephrin is transcriptionally activated by the Wilms\u2019 tumor suppressor WT1.","volume":"15","author":"Wagner","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"R38-12-20230208","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1038\/ncb1400","article-title":"Synaptopodin orchestrates actin organization and cell motility via regulation of RhoA signalling.","volume":"8","author":"Asanuma","year":"2006","journal-title":"Nat Cell Biol"},{"key":"R39-12-20230208","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/S0022-3476(70)80409-7","article-title":"A syndrome of pseudohermaphroditism, Wilms\u2019 tumor, hypertension, and degenerative renal disease.","volume":"76","author":"Drash","year":"1970","journal-title":"J Pediatr"},{"key":"R40-12-20230208","first-page":"729","article-title":"[Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms\u2019 tumor, parenchymatous nephropathy and XX\/XY mosaicism]","volume":"24","author":"Denys","year":"1967","journal-title":"Arch Fr Pediatr"},{"key":"R41-12-20230208","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1101\/gad.9.17.2143","article-title":"The WT1 gene product stabilizes p53 and inhibits p53-mediated apoptosis.","volume":"9","author":"Maheswaran","year":"1995","journal-title":"Genes Dev"},{"key":"R42-12-20230208","doi-asserted-by":"crossref","first-page":"8174","DOI":"10.1158\/0008-5472.CAN-04-3657","article-title":"WT1 induces apoptosis through transcriptional regulation of the proapoptotic Bcl-2 family member Bak.","volume":"65","author":"Morrison","year":"2005","journal-title":"Cancer Res"},{"key":"R43-12-20230208","doi-asserted-by":"crossref","first-page":"415","DOI":"10.2353\/ajpath.2007.070075","article-title":"Synaptopodin protects against proteinuria by disrupting Cdc42:IRSp53:Mena signaling complexes in kidney podocytes.","volume":"171","author":"Yanagida-Asanuma","year":"2007","journal-title":"Am J Pathol"},{"key":"R44-12-20230208","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1006\/geno.1999.5828","article-title":"Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.","volume":"58","author":"Winn","year":"1999","journal-title":"Genomics"},{"key":"R45-12-20230208","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng1295-402","article-title":"The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance.","volume":"11","author":"O\u2019Connell","year":"1995","journal-title":"Nat Genet"},{"key":"R46-12-20230208","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/gepi.1370100402","article-title":"Chromosome-based method for rapid computer simulation in human genetic linkage analysis.","volume":"10","author":"Terwilliger","year":"1993","journal-title":"Genet Epidemiol"},{"key":"R47-12-20230208","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg0104s09","article-title":"Analysis of genetic linkage data for Mendelian traits.","volume":"Genet Chapter 1","author":"Pericak-Vance","year":"2001","journal-title":"Curr Protoc Hum"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201504000-00012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:24:51Z","timestamp":1786130691000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201504000-00012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":47,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2013101053","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2015,4]]}}}